Is SSTR4 p.Val210= (c.630C>A) pathogenic?

SSTR4 p.Val210= (c.630C>A) is classified Benign in SSTR4 (ClinVar, Multiple submitters, 2 submitters; last evaluated 2018-06-18). Rare (popmax 0.367%, nfe).

How common is SSTR4 p.Val210= (c.630C>A) in the general population?

SSTR4 p.Val210= (c.630C>A) is rare (popmax 0.367%, nfe) (gnomAD).

SSTR4 p.Val210=

c.630C>A · rs4988472 · VCV710786

Benign Multiple submitters

Classification

Benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

gnomAD v4.1

Rare

rare (popmax 0.367%, nfe)

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 1	GERP 0.84, phastCons 1
Overall
CADD	7.891	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.367% European (non-Finnish) · 4,326/1,179,650 alleles

Filtering AF 0.358% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.354%

Overall 0.301% 4,819/1,603,186 alleles · rare exomes 4,499/1,450,868 · genomes 320/152,318 · joint denominator

Ancestry group	Frequency	1 in
Amishnot grpmax-eligible	4.17%	24
European (non-Finnish)grpmax	0.367%	273
Remaining individualsnot grpmax-eligible	0.271%	369
Admixed American	0.135%	741
Ashkenazi Jewishnot grpmax-eligible	0.112%	896
Middle Eastern	0.099%	1,010
South Asian	0.0923%	1,084
Finnishnot grpmax-eligible	0.0764%	1,310
African / African-American	0.0533%	1,876
East Asian	0.00223%	44,840

Amish shows a higher raw frequency than the grpmax group above it. gnomAD excludes bottlenecked groups — Finnish, Ashkenazi Jewish, Amish and “Remaining individuals” — from grpmax, because founder effects make their frequencies unrepresentative for filtering. The table is sorted by frequency, so an excluded group can sit above the grpmax row.

Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.

Variant & gene context

Gene: SSTR4
Protein: p.Val210=
Coding: c.630C>A
MANE Select: NM_001052
dbSNP: rs4988472
Type: single nucleotide variant
Location: chr20:23036113 (GRCh38)
Structure: AlphaFold pLDDT 78.72 · 2 PDB
Residue 210: an α-helix

Full SSTR4 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

SSTR4 p.Leu233= Benign ★★ same type
SSTR4 p.Thr17= Benign ★★ same type
SSTR4 p.Ala155Val Uncertain significance ★ ⚠ same type
SSTR4 p.Ala18Thr Uncertain significance ★ ⚠ same type
SSTR4 p.Ala240Val Uncertain significance ★ ⚠ same type
SSTR4 p.Ala28Ser Uncertain significance ★ ⚠ same type
SSTR4 p.Ala302Gly Uncertain significance ★ ⚠ same type
SSTR4 p.Ala302Ser Uncertain significance ★ ⚠ same type

Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →

Cite Sugi Variant

Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/sstr4-p-val210 (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown