Y29H (p.Tyr29His) variant of ASS1 (Argininosuccinate synthase)
Y29H (p.Tyr29His) in ASS1 (Argininosuccinate synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
Y29H (p.Tyr29His) variant details
- p.Tyr29His
- gnomAD 9-130452313-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.771
- REVEL 0.88
- CADD 24.70
- PolyPhen-2 0.58
- SIFT 0.06
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available