L14V (p.Leu14Val) variant of CPS1 (P31327)
L14V (p.Leu14Val) in CPS1 (P31327) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
L14V (p.Leu14Val) variant details
- p.Leu14Val
- gnomAD 2-210556773-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.40
- CADD 13.60
- PolyPhen-2 0.90
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available