G11A (p.Gly11Ala) variant of RAD50 (DNA repair protein RAD50)
G11A (p.Gly11Ala) in RAD50 (DNA repair protein RAD50) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
G11A (p.Gly11Ala) variant details
- p.Gly11Ala
- gnomAD 5-132557356-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.799
- CADD 29.00
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available