CFAP97 p.His113=
c.339C>T · rs141482103 · VCV729141
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.787%, 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 1.1 | GERP -2.2, phastCons 0.98 |
| Overall | ||
| CADD | 2.018 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.787%
African / African-American · 590/74,996 alleles
Filtering AF
0.734%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.713%
Overall
0.0424%
683/1,611,406 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.787% | 127 |
| Middle Eastern | 0.066% | 1,514 |
| Remaining individualsnot grpmax-eligible | 0.0545% | 1,835 |
| Admixed American | 0.0537% | 1,863 |
| South Asian | 0.00221% | 45,310 |
| European (non-Finnish) | 0.00178% | 56,123 |
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
- CFAP97
- Protein
- p.His113=
- Coding
- c.339C>T
- MANE Select
- NM_020827
- dbSNP
- rs141482103
- Type
- single nucleotide variant
- Location
- chr4:185190858 (GRCh38)
- Gene constraint
- LOEUF 1.095 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 58.55
Similar variants
- CFAP97 p.Glu383= Benign ★★ same type
- CFAP97 p.Thr499Met Benign ★★ same type
- CFAP97 p.Ala152Gly Uncertain significance ★ ⚠ same type
- CFAP97 p.Ala448Thr Uncertain significance ★ ⚠ same type
- CFAP97 p.Arg381Ser Uncertain significance ★ ⚠ same type
- CFAP97 p.Arg389Gln Uncertain significance ★ ⚠ same type
- CFAP97 p.Arg457His Uncertain significance ★ ⚠ same type
- CFAP97 p.Arg479Trp 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/cfap97-p-his113 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown