L12H (p.Leu12His) variant of RAD51D (O75771)
L12H (p.Leu12His) in RAD51D (O75771) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
L12H (p.Leu12His) variant details
- p.Leu12His
- Ensembl rs2142480636
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- REVEL 0.49
- CADD 27.70
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available