R8A (p.Arg8Ala) variant of BRCA2 (P51587)
R8A (p.Arg8Ala) in BRCA2 (P51587) is a protein-truncating change. The record also includes variant effect predictions, population frequency data, and published literature.
R8A (p.Arg8Ala) variant details
- p.Arg8Ala
- rs397507623
- gnomAD 13-32316477-AAG-A
- Frameshift
- CADD 25.10
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Cited in: Recurrent mutations of BRCA1, BRCA2 and PALB2 in the population of breast and ovarian cancer patients in Southern… (PMID 26843898)
- Cited in: A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders. (PMID 26467025)