K50E (p.Lys50Glu) variant of RAD50 (DNA repair protein RAD50)
K50E (p.Lys50Glu) in RAD50 (DNA repair protein RAD50) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
K50E (p.Lys50Glu) variant details
- p.Lys50Glu
- gnomAD 5-132559302-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.665
- CADD 29.40
- PolyPhen-2 0.97
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available