L31V (p.Leu31Val) variant of RAD50 (DNA repair protein RAD50)
L31V (p.Leu31Val) in RAD50 (DNA repair protein RAD50) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
L31V (p.Leu31Val) variant details
- p.Leu31Val
- gnomAD 5-132557415-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- CADD 23.60
- PolyPhen-2 0.99
- SIFT 0.11
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available