S65G (p.Ser65Gly) variant of ASS1 (Argininosuccinate synthase)
S65G (p.Ser65Gly) in ASS1 (Argininosuccinate synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
S65G (p.Ser65Gly) variant details
- p.Ser65Gly
- gnomAD 9-130458419-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- REVEL 0.58
- CADD 24.20
- PolyPhen-2 0.31
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available