S3R (p.Ser3Arg) variant of ASS1 (Argininosuccinate synthase)
S3R (p.Ser3Arg) in ASS1 (Argininosuccinate synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
S3R (p.Ser3Arg) variant details
- p.Ser3Arg
- gnomAD 9-130452237-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.37
- CADD 23.30
- PolyPhen-2 0.14
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available