FAP p.Gly195=
c.585A>C · rs76814605 · VCV791876
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 3.81%, 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 0.23 | GERP -3.6, phastCons 0.99 |
| Overall | ||
| CADD | 4.426 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
3.81%
African / African-American · 2,848/74,792 alleles
Filtering AF
3.69%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 3.64%
Overall
0.207%
3,328/1,604,880 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 3.81% | 26 |
| Remaining individualsnot grpmax-eligible | 0.293% | 341 |
| Admixed American | 0.292% | 343 |
| Middle Eastern | 0.117% | 855 |
| European (non-Finnish) | 0.00979% | 10,217 |
| South Asian | 0.00221% | 45,281 |
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
- FAP
- Protein
- p.Gly195=
- Coding
- c.585A>C
- MANE Select
- NM_004460
- dbSNP
- rs76814605
- Type
- single nucleotide variant
- Location
- chr2:162219085 (GRCh38)
- Gene constraint
- LOEUF 0.892 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 95.72 · 4 PDB
- Residue 195
- a β-strand
Similar variants
- FAP c.1870-8C>A Benign ★★ same type
- FAP p.Ala100= Benign ★★ same type
- FAP p.Gln708= Benign ★★ same type
- FAP p.Leu212Phe Benign ★★ ⚠ same type
- FAP p.Phe185Leu Likely benign ★★ ⚠ same type
- FAP p.Ser737= Likely benign ★★ same type
- FAP p.Thr229Met Benign ★★ ⚠ same type
- FAP p.Tyr458= 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/fap-p-gly195 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown