RAD51AP1
Chr 12RAD51 associated protein 1
Also known as: PIR51
RAD51AP1 encodes a structure-specific DNA-binding protein that promotes RAD51-mediated homologous recombination and DNA repair by stimulating D-loop formation and binding to branched DNA structures. Mutations cause microcephaly, growth retardation, and facial dysmorphism with autosomal recessive inheritance. The gene shows tolerance to loss-of-function variants (low pLI score), consistent with the recessive inheritance pattern observed in affected patients.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
127 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 53 | 0 | 53 |
Likely Pathogenic | 0 | 0 | 5 | 0 | 5 |
VUS | 0 | 42 | 8 | 0 | 50 |
Likely Benign | 0 | 4 | 0 | 0 | 4 |
Benign | 0 | 3 | 1 | 1 | 5 |
| Total | 0 | 49 | 67 | 1 | 117 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
RAD51AP1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools