A51S (p.Ala51Ser) variant of ASS1 (Argininosuccinate synthase)
A51S (p.Ala51Ser) in ASS1 (Argininosuccinate synthase) is a missense 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.
A51S (p.Ala51Ser) variant details
- p.Ala51Ser
- gnomAD 9-130454350-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.824
- REVEL 0.89
- CADD 23.20
- PolyPhen-2 0.44
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available