C53R (p.Cys53Arg) variant of RAD50 (DNA repair protein RAD50)
C53R (p.Cys53Arg) in RAD50 (DNA repair protein RAD50) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
C53R (p.Cys53Arg) variant details
- p.Cys53Arg
- gnomAD 5-132559311-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- CADD 26.00
- PolyPhen-2 0.51
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available