S3G (p.Ser3Gly) variant of ASS1 (Argininosuccinate synthase)
S3G (p.Ser3Gly) in ASS1 (Argininosuccinate synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
S3G (p.Ser3Gly) variant details
- p.Ser3Gly
- gnomAD 9-130452235-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.35
- CADD 14.30
- PolyPhen-2 0.00
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available