V31F (p.Val31Phe) variant of ASS1 (Argininosuccinate synthase)
V31F (p.Val31Phe) in ASS1 (Argininosuccinate synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
V31F (p.Val31Phe) variant details
- p.Val31Phe
- gnomAD 9-130452319-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.894
- REVEL 0.96
- CADD 29.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available