V71L (p.Val71Leu) variant of CPS1 (P31327)
V71L (p.Val71Leu) in CPS1 (P31327) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
V71L (p.Val71Leu) variant details
- p.Val71Leu
- gnomAD 2-210573382-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- REVEL 0.42
- CADD 22.30
- PolyPhen-2 0.06
- SIFT 0.43
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available