V22A (p.Val22Ala) variant of ASS1 (Argininosuccinate synthase)
V22A (p.Val22Ala) in ASS1 (Argininosuccinate synthase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
V22A (p.Val22Ala) variant details
- p.Val22Ala
- gnomAD 9-130452282-G-GTG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.822
- CADD 29.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available