CFAP52 p.Arg365=
c.1095G>A · rs1910333331 · VCV2647465
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 2 | GERP -0.14, phastCons 1 |
| Overall | ||
| CADD | 7.229 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- CFAP52
- Protein
- p.Arg365=
- Coding
- c.1095G>A
- MANE Select
- NM_145054
- dbSNP
- rs1910333331
- Type
- single nucleotide variant
- Location
- chr17:9628741 (GRCh38)
- Gene constraint
- LOEUF 1.022 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 93.59 · 2 PDB
Similar variants
- CFAP52 p.Ala147Thr Uncertain significance ★★ ⚠ same type
- CFAP52 p.Ala161Asp Uncertain significance ★★ ⚠ same type
- CFAP52 p.Arg106Gln Uncertain significance ★★ ⚠ same type
- CFAP52 p.Arg170Gln Uncertain significance ★★ ⚠ same type
- CFAP52 p.Arg594Cys Uncertain significance ★★ ⚠ same type
- CFAP52 p.Gly343Ser Uncertain significance ★★ ⚠ same type
- CFAP52 p.Gly534Ala Uncertain significance ★★ same type
- CFAP52 p.Met551Thr 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/cfap52-p-arg365 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown