C9S (p.Cys9Ser) variant of RAD51D (O75771)
C9S (p.Cys9Ser) in RAD51D (O75771) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer; Breast and/or ovarian cancer; Hereditary cancer-predisposing. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
C9S (p.Cys9Ser) variant details
- p.Cys9Ser
- Ensembl rs2142480809
- Conflicting interpretations
- Hereditary cancer; Breast and/or ovarian cancer; Hereditary cancer-predisposing
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.22
- CADD 23.70
- PolyPhen-2 0.54
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer; Breast and/or ovarian cancer; Hereditary canc)
- EBI: Likely benign (in dbSNP:rs140825795)
- UniProt: Likely benign (in dbSNP:rs140825795)
- Most common in the HGDP:SARDINIAN population (allele frequency 0.037)
- Structural context available
- Cited in: MAGI2 Mutations Cause Congenital Nephrotic Syndrome. (PMID 27932480)