G11S (p.Gly11Ser) variant of RAD51D (O75771)
G11S (p.Gly11Ser) in RAD51D (O75771) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
G11S (p.Gly11Ser) variant details
- p.Gly11Ser
- ExAC rs776471760
- TOPMed rs776471760
- gnomAD rs776471760
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.21
- CADD 27.10
- PolyPhen-2 0.98
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available