S6A (p.Ser6Ala) variant of ASS1 (Argininosuccinate synthase)
S6A (p.Ser6Ala) in ASS1 (Argininosuccinate synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Citrullinemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
S6A (p.Ser6Ala) variant details
- p.Ser6Ala
- rs757913342
- ClinGen CA5283124
- ClinVar RCV002595194
- ExAC rs757913342
- Uncertain significance
- Citrullinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.37
- CADD 23.00
- PolyPhen-2 0.01
- SIFT 0.03
- ClinVar: Uncertain significance (Citrullinemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available