CFAP44 p.Ala1817=
c.5451G>A · rs377654876 · VCV3033995
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.134%, afr)
Conditions
1
CFAP44-related disorder
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.29 | benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -4.2 | GERP -4.8 |
| Overall | ||
| CADD | 1.938 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.134%
African / African-American · 98/73,138 alleles
Filtering AF
0.113%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.104%
Overall
0.015%
231/1,537,272 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.134% | 746 |
| Remaining individualsnot grpmax-eligible | 0.0116% | 8,585 |
| European (non-Finnish) | 0.0104% | 9,638 |
| South Asian | 0.00476% | 21,013 |
| Admixed American | 0.00392% | 25,490 |
| Finnishnot grpmax-eligible | 0.00219% | 45,710 |
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
- CFAP44
- Protein
- p.Ala1817=
- Coding
- c.5451G>A
- MANE Select
- NM_001164496
- dbSNP
- rs377654876
- Type
- single nucleotide variant
- Location
- chr3:113291671 (GRCh38)
- Gene constraint
- LOEUF 0.697 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 74.87 · 1 PDB
- Residue 1817
- a UniProt-annotated variant site (in spgf20)
Disease context
CFAP44-related disorder
Similar variants
- CFAP44 p.Arg977Ter Likely pathogenic ★ same condition
- CFAP44 p.Phe1795Ser Uncertain significance ⚠ same condition
- CFAP44 c.1570-5C>T Likely benign same condition
- CFAP44 c.2716-8T>C Likely benign same condition
- CFAP44 p.Lys948= Likely benign same condition
- CFAP44 p.Met820Val Benign same condition
- CFAP44 p.Pro1254= Likely benign same condition
- CFAP44 p.Leu873fs Likely pathogenic ★ same condition
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/cfap44-p-ala1817 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown