S12G (p.Ser12Gly) variant of ASS1 (Argininosuccinate synthase)
S12G (p.Ser12Gly) in ASS1 (Argininosuccinate synthase) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
S12G (p.Ser12Gly) variant details
- p.Ser12Gly
- gnomAD rs1283372037
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.816
- REVEL 0.97
- CADD 24.50
- PolyPhen-2 0.41
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available