P37A (p.Pro37Ala) variant of RAD50 (DNA repair protein RAD50)
P37A (p.Pro37Ala) 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.
P37A (p.Pro37Ala) variant details
- p.Pro37Ala
- gnomAD 5-132557433-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- CADD 23.90
- PolyPhen-2 0.84
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available