A10P (p.Ala10Pro) variant of ASS1 (Argininosuccinate synthase)
A10P (p.Ala10Pro) 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 0.92 / 1. The record also includes population frequency data and structural context.
A10P (p.Ala10Pro) variant details
- p.Ala10Pro
- rs1845345016
- ClinGen CA375223506
- ClinVar RCV001044877
- TOPMed rs1845345016
- Uncertain significance
- Citrullinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.916
- REVEL 0.99
- CADD 32.00
- PolyPhen-2 0.82
- SIFT 0.02
- ClinVar: Uncertain significance (Citrullinemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available