C48Y (p.Cys48Tyr) variant of RAD50 (DNA repair protein RAD50)
C48Y (p.Cys48Tyr) in RAD50 (DNA repair protein RAD50) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
C48Y (p.Cys48Tyr) variant details
- p.Cys48Tyr
- gnomAD rs1442006994
- Missense
- Variant Prioritization Score for Impact Estimate 0.808
- CADD 29.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 2.4e-05)
- Structural context available