G2S (p.Gly2Ser) variant of RAD51D (O75771)
G2S (p.Gly2Ser) in RAD51D (O75771) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; not provided; Breast-ovarian cancer, fa. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
G2S (p.Gly2Ser) variant details
- p.Gly2Ser
- rs372082751
- ClinGen CA299954
- ClinVar RCV000160955
- ClinVar RCV000554222
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Breast-ovarian cancer, fa
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.14
- CADD 23.70
- PolyPhen-2 0.61
- SIFT 0.48
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided; Breast-ov)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 6e-05)
- 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)