V31I (p.Val31Ile) variant of ASS1 (Argininosuccinate synthase)
V31I (p.Val31Ile) in ASS1 (Argininosuccinate synthase) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Citrullinemia type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
V31I (p.Val31Ile) variant details
- p.Val31Ile
- ESP rs374444560
- ExAC rs374444560
- TOPMed rs374444560
- gnomAD rs374444560
- Uncertain significance
- Citrullinemia type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.715
- REVEL 0.69
- CADD 24.40
- PolyPhen-2 0.35
- SIFT 0.02
- ClinVar: Uncertain significance (Citrullinemia type I)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available