Is ANG p.His32= (c.96C>T) pathogenic?

ANG p.His32= (c.96C>T) is classified Likely benign in ANG (ClinVar, Single submitter, 1 submitter; last evaluated 2025-11-01). Very rare (popmax 0.00534%, afr).

How common is ANG p.His32= (c.96C>T) in the general population?

ANG p.His32= (c.96C>T) is very rare (popmax 0.00534%, afr) (gnomAD).

ANG p.His32=

c.96C>T · VCV4705873

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

very rare (popmax 0.00534%, afr)

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 -3.4	GERP -2.9
Overall
CADD	0.342	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.00534% African / African-American · 4/74,908 alleles

Filtering AF 0.00175% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.00104%

Overall 0.000248% 4/1,614,038 alleles · very rare

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: ANG
Protein: p.His32=
Coding: c.96C>T
MANE Select: NM_001097577
Type: single nucleotide variant
Location: chr14:20693660 (GRCh38)
Gene constraint: LOEUF 1.697 · pLI 0.42 (gnomAD)
Structure: AlphaFold pLDDT 90.50 · 56 PDB
Residue 32: an α-helix

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

Similar variants

ANG p.His32Gln Uncertain significance ★ ⚠ same residue
ANG p.Arg75His Uncertain significance ★★ ⚠ same type
ANG p.Gly123Ala Uncertain significance ★★ ⚠ same type
ANG p.Gly15Ser Uncertain significance ★★ ⚠ same type
ANG p.Lys78Glu Uncertain significance ★★ ⚠ same type
ANG p.Pro21Leu Uncertain significance ★★ ⚠ same type
ANG p.Pro21Ser Uncertain significance ★★ ⚠ same type
ANG c.-18-222G>C Benign ★★ 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/ang-p-his32 (accessed [today's date]).

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