P10S (p.Pro10Ser) variant of RAD51D (O75771)
P10S (p.Pro10Ser) in RAD51D (O75771) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Breast-ovarian cancer, familial, susceptibility to, 4; Hereditary. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
P10S (p.Pro10Ser) variant details
- p.Pro10Ser
- rs1555570500
- ClinGen CA399092512
- ClinVar RCV000568308
- ClinVar RCV000589109
- Uncertain significance
- not provided; Breast-ovarian cancer, familial, susceptibility to, 4; Hereditary
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- REVEL 0.39
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Breast-ovarian cancer, familial, susceptibility to)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)