Y34C (p.Tyr34Cys) variant of ASS1 (Argininosuccinate synthase)
Y34C (p.Tyr34Cys) in ASS1 (Argininosuccinate synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
Y34C (p.Tyr34Cys) variant details
- p.Tyr34Cys
- gnomAD 9-130452329-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.66
- REVEL 0.76
- CADD 24.70
- PolyPhen-2 0.37
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available