A22A (p.Ala22Ala) variant of BRCA2 (P51587)
A22A (p.Ala22Ala) in BRCA2 (P51587) is a protein-truncating change. The record also includes variant effect predictions, population frequency data, and published literature.
A22A (p.Ala22Ala) variant details
- p.Ala22Ala
- rs1555280115
- gnomAD 13-32316526-A-T
- Splice Region
- CADD 24.60
- Most common in the South Asian population (allele frequency 0.00044)
- Literature evidence available