V49V (p.Val49Val) variant of CPS1 (P31327)
V49V (p.Val49Val) in CPS1 (P31327) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
V49V (p.Val49Val) variant details
- p.Val49Val
- rs1574540092
- gnomAD 2-210573318-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.352
- CADD 9.96
- Population evidence available
- Structural context available
- Literature evidence available