ANGPT4 p.Glu117=
c.351G>A · rs79320190 · VCV710866
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 2.12%, 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 -9.2 | GERP -3.7 |
| Overall | ||
| CADD | 0.057 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
2.12%
African / African-American · 1,594/75,036 alleles
Filtering AF
2.04%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 2%
Overall
0.111%
1,799/1,613,562 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 2.12% | 47 |
| Remaining individualsnot grpmax-eligible | 0.163% | 613 |
| Admixed American | 0.15% | 667 |
| Middle Eastern | 0.0166% | 6,034 |
| South Asian | 0.0011% | 91,074 |
| European (non-Finnish) | 0.000932% | 107,273 |
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
- ANGPT4
- Protein
- p.Glu117=
- Coding
- c.351G>A
- MANE Select
- NM_015985
- dbSNP
- rs79320190
- Type
- single nucleotide variant
- Location
- chr20:890327 (GRCh38)
- Gene constraint
- LOEUF 1.189 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 83.33
Similar variants
- ANGPT4 p.Glu117Gly Uncertain significance ★ ⚠ same residue
- ANGPT4 p.Ser435= Benign ★★ same type
- ANGPT4 p.Ala233Ser Uncertain significance ★ ⚠ same type
- ANGPT4 p.Ala275Thr Uncertain significance ★ ⚠ same type
- ANGPT4 p.Ala277Val Uncertain significance ★ ⚠ same type
- ANGPT4 p.Ala279Asp Uncertain significance ★ ⚠ same type
- ANGPT4 p.Ala445Thr Uncertain significance ★ ⚠ same type
- ANGPT4 p.Arg242His 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/angpt4-p-glu117 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown