V12V (p.Val12Val) variant of RAD50 (DNA repair protein RAD50)
V12V (p.Val12Val) in RAD50 (DNA repair protein RAD50) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
V12V (p.Val12Val) variant details
- p.Val12Val
- gnomAD 5-132557360-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.444
- CADD 13.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available