FAP p.Ser737=
c.2211C>T · rs150790668 · VCV717148
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.266%, 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 |
|---|---|---|
| Pangolin | Δ0.21 | loss · gain 0.00 · not in the SpliceAI release · independent |
| Constraint at this position | ||
| Conservation | phyloP -1.9 | GERP -5.6 |
| Overall | ||
| CADD | 12.09 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.266%
European (non-Finnish) · 3,137/1,179,290 alleles
Filtering AF
0.258%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.255%
Overall
0.214%
3,452/1,613,066 alleles · rare
exomes 3,244/1,460,886 · genomes 208/152,180 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.266% | 376 |
| Remaining individualsnot grpmax-eligible | 0.184% | 543 |
| Finnishnot grpmax-eligible | 0.152% | 660 |
| Admixed American | 0.0901% | 1,110 |
| African / African-American | 0.044% | 2,271 |
| South Asian | 0.0154% | 6,503 |
| Ashkenazi Jewishnot grpmax-eligible | 0.00676% | 14,784 |
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.Ser737=
- Coding
- c.2211C>T
- MANE Select
- NM_004460
- dbSNP
- rs150790668
- Type
- single nucleotide variant
- Location
- chr2:162171051 (GRCh38)
- Gene constraint
- LOEUF 0.892 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 95.72 · 4 PDB
Similar variants
- FAP c.1870-8C>A Benign ★★ same type
- FAP p.Ala100= Benign ★★ same type
- FAP p.Gln708= Benign ★★ same type
- FAP p.Gly195= Benign ★★ same type
- FAP p.Leu212Phe Benign ★★ same type
- FAP p.Phe185Leu 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-ser737 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown