V8F (p.Val8Phe) variant of ASS1 (Argininosuccinate synthase)
V8F (p.Val8Phe) in ASS1 (Argininosuccinate synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data and structural context.
V8F (p.Val8Phe) variant details
- p.Val8Phe
- Ensembl rs1845344767
- Missense
- Variant Prioritization Score for Impact Estimate 0.909
- REVEL 0.98
- CADD 32.00
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available