W29L (p.Trp29Leu) variant of CPS1 (P31327)
W29L (p.Trp29Leu) 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.
W29L (p.Trp29Leu) variant details
- p.Trp29Leu
- gnomAD 2-210556819-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- REVEL 0.49
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available