V69L (p.Val69Leu) variant of ASS1 (Argininosuccinate synthase)
V69L (p.Val69Leu) in ASS1 (Argininosuccinate synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
V69L (p.Val69Leu) variant details
- p.Val69Leu
- gnomAD 9-130458431-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.731
- REVEL 0.81
- CADD 23.40
- PolyPhen-2 0.15
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available