Is STRC p.Arg782Cys (c.2344C>T) pathogenic?

STRC p.Arg782Cys (c.2344C>T) is classified Uncertain significance in STRC (ClinVar, Single submitter, 1 submitter; last evaluated 2019-10-28). AlphaMissense: ambiguous (0.3569); No allele count reported in gnomAD v4.1 (AN 193,334).

How common is STRC p.Arg782Cys (c.2344C>T) in the general population?

STRC p.Arg782Cys (c.2344C>T) is no allele count reported in gnomAD v4.1 (AN 193,334) (gnomAD).

What do computational predictors say about STRC p.Arg782Cys (c.2344C>T)?

AlphaMissense predicts ambiguous (score 0.3569) — an in-silico prediction, not a clinical call.

STRC p.Arg782Cys

c.2344C>T · rs1332832662 · VCV805527

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

ambiguous

0.3569 · ACMG-weighted

gnomAD v4.1

Not reported

no allele count reported in gnomAD v4.1 (AN 193,334)

Computational evidence

Protein change
AlphaMissense	0.3569	ambiguous
REVEL	0.387	indeterminate
SaProt	LLR -10.59	damaging
Splicing
SpliceAI	<0.2	no splice effect predicted · four deltas, not one · how we know
Constraint at this position
Conservation	phyloP 10	GERP 1.5, phastCons 1
Regional constraint	o/e 0.00	constrained · MANE · 7,566 bp · p 1.3e-74 · regional, not allelic
Overall
CADD	25.9	PHRED · no single calibrated threshold — expert panels disagree

AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.

Population frequency

gnomAD v4.1 · exomes + genomes

No allele count reported in gnomAD v4.1 (AN 193,334). This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: STRC
Protein: p.Arg782Cys
Coding: c.2344C>T
MANE Select: NM_153700
dbSNP: rs1332832662
Type: single nucleotide variant
Location: chr15:43614023 (GRCh38)
Gene constraint: LOEUF 0.713 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 69.21

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

Similar variants

STRC p.Arg782His Uncertain significance ★ ⚠ same residue
STRC c.4219-1G>A Pathogenic/Likely pathogenic ★★ same type
STRC c.4701+1G>A Pathogenic/Likely pathogenic ★★ same type
STRC p.Arg1073Ter Pathogenic ★★ same type
STRC p.Arg1154Ter Pathogenic/Likely pathogenic ★★ same type
STRC p.Arg1224Ter Pathogenic ★★ same type
STRC p.Arg1338Ter Pathogenic/Likely pathogenic ★★ same type
STRC p.Arg1451Ter Pathogenic/Likely pathogenic ★★ 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/strc-p-arg782cys (accessed [today's date]).

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