P10H (p.Pro10His) variant of RAD51D (O75771)
P10H (p.Pro10His) 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 0.49 / 1. The record also includes population frequency data and structural context.
P10H (p.Pro10His) variant details
- p.Pro10His
- cosmic curated COSV50105
- ExAC rs759505297
- TOPMed rs759505297
- gnomAD rs759505297
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.47
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available