G19V (p.Gly19Val) variant of CPS1 (P31327)
G19V (p.Gly19Val) in CPS1 (P31327) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
G19V (p.Gly19Val) variant details
- p.Gly19Val
- gnomAD 2-210556789-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.38
- CADD 19.10
- PolyPhen-2 0.05
- SIFT 0.41
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available