A68V (p.Ala68Val) variant of CPS1 (P31327)
A68V (p.Ala68Val) in CPS1 (P31327) 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.
A68V (p.Ala68Val) variant details
- p.Ala68Val
- gnomAD 2-210573374-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- REVEL 0.71
- CADD 22.50
- PolyPhen-2 0.62
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available