E42K (p.Glu42Lys) variant of RAD51 (Q06609)
E42K (p.Glu42Lys) in RAD51 (Q06609) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
E42K (p.Glu42Lys) variant details
- p.Glu42Lys
- gnomAD 15-40701100-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.33
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available