C48W (p.Cys48Trp) variant of RAD50 (DNA repair protein RAD50)
C48W (p.Cys48Trp) in RAD50 (DNA repair protein RAD50) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
C48W (p.Cys48Trp) variant details
- p.Cys48Trp
- gnomAD 5-132559298-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- CADD 27.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available