Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 3.1%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.019 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | <0.2 | all four deltas below 0.2 · C>A here scores Δ0.33 · evaluated, not missing |
| Constraint at this position | ||
| Conservation | phyloP 0.13 | GERP -0.3, phastCons 0.49 |
| Overall | ||
| CADD | 10.93 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
3.1%
African / African-American · 2,317/74,730 alleles
Filtering AF
3%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 2.95%
Overall
0.166%
2,675/1,607,242 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 3.1% | 32 |
| Remaining individualsnot grpmax-eligible | 0.191% | 523 |
| Admixed American | 0.183% | 546 |
| Middle Eastern | 0.165% | 605 |
| South Asian | 0.0122% | 8,226 |
| European (non-Finnish) | 0.0091% | 10,984 |
| Finnishnot grpmax-eligible | 0.00313% | 31,989 |
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
- CFAP95
- Protein
- p.Ser122=
- Coding
- c.366C>T
- MANE Select
- NM_001010940
- dbSNP
- rs7851894
- Type
- single nucleotide variant
- Location
- chr9:69856659 (GRCh38)
- Structure
- AlphaFold pLDDT 63.03 · 2 PDB
Similar variants
- CFAP95 c.381-6T>C Benign ★★ same type
- CFAP95 p.Arg80Gln Uncertain significance ★ ⚠ same type
- CFAP95 p.His169Arg Uncertain significance ★ ⚠ same type
- CFAP95 p.Tyr156Cys Uncertain significance ★ ⚠ same type
- CFAP95 p.Ser157= Likely 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/cfap95-p-ser122 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown