A7V (p.Ala7Val) variant of CPS1 (P31327)
A7V (p.Ala7Val) in CPS1 (P31327) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
A7V (p.Ala7Val) variant details
- p.Ala7Val
- gnomAD 2-210556753-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.41
- CADD 19.40
- PolyPhen-2 0.00
- SIFT 0.36
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available