Y34S (p.Tyr34Ser) variant of ASS1 (Argininosuccinate synthase)
Y34S (p.Tyr34Ser) in ASS1 (Argininosuccinate synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
Y34S (p.Tyr34Ser) variant details
- p.Tyr34Ser
- gnomAD 9-130452329-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.73
- REVEL 0.86
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 8.1e-06)
- Structural context available
- Literature evidence available