V22L (p.Val22Leu) variant of ASS1 (Argininosuccinate synthase)
V22L (p.Val22Leu) in ASS1 (Argininosuccinate synthase) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
V22L (p.Val22Leu) variant details
- p.Val22Leu
- rs762279472
- NCI-TCGA Cosmic COSV6168
- cosmic curated COSV61688
- ExAC rs762279472
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- REVEL 0.45
- CADD 21.90
- PolyPhen-2 0.02
- SIFT 0.65
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available