S18W (p.Ser18Trp) variant of ASS1 (Argininosuccinate synthase)
S18W (p.Ser18Trp) in ASS1 (Argininosuccinate synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
S18W (p.Ser18Trp) variant details
- p.Ser18Trp
- gnomAD 9-130452281-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.894
- REVEL 0.97
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available