S2T (p.Ser2Thr) variant of ASS1 (Argininosuccinate synthase)
S2T (p.Ser2Thr) in ASS1 (Argininosuccinate synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
S2T (p.Ser2Thr) variant details
- p.Ser2Thr
- 1000Genomes rs200379004
- ExAC rs200379004
- gnomAD rs200379004
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.36
- CADD 18.30
- PolyPhen-2 0.04
- SIFT 0.18
- Most common in the 1KG:JPT population (allele frequency 0.0049)
- Structural context available