L10R (p.Leu10Arg) variant of RAD50 (DNA repair protein RAD50)
L10R (p.Leu10Arg) in RAD50 (DNA repair protein RAD50) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
L10R (p.Leu10Arg) variant details
- p.Leu10Arg
- gnomAD 5-132557353-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- CADD 23.90
- PolyPhen-2 0.02
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available