V22V (p.Val22Val) variant of ASS1 (Argininosuccinate synthase)
V22V (p.Val22Val) in ASS1 (Argininosuccinate synthase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
V22V (p.Val22Val) variant details
- p.Val22Val
- rs148653590
- gnomAD 9-130452294-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.401
- CADD 12.20
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available