S22G (p.Ser22Gly) variant of RAD51D (O75771)
S22G (p.Ser22Gly) in RAD51D (O75771) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided; Breast-ovarian cancer, familial, susceptibility to, 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
S22G (p.Ser22Gly) variant details
- p.Ser22Gly
- gnomAD rs2091797688
- Uncertain significance
- not provided; Breast-ovarian cancer, familial, susceptibility to, 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.138
- REVEL 0.01
- CADD 18.40
- PolyPhen-2 0.00
- SIFT 0.28
- ClinVar: Uncertain significance (not provided; Breast-ovarian cancer, familial, susceptibility to)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available