W29C (p.Trp29Cys) variant of CPS1 (P31327)
W29C (p.Trp29Cys) in CPS1 (P31327) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
W29C (p.Trp29Cys) variant details
- p.Trp29Cys
- gnomAD 2-210556820-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- REVEL 0.53
- CADD 23.10
- PolyPhen-2 0.00
- SIFT 0.16
- Population evidence available
- Structural context available
- Literature evidence available