V11G (p.Val11Gly) variant of CPS1 (P31327)
V11G (p.Val11Gly) 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.
V11G (p.Val11Gly) variant details
- p.Val11Gly
- gnomAD 2-210556765-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.54
- CADD 23.20
- PolyPhen-2 0.01
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available