V72I (p.Val72Ile) variant of CPS1 (P31327)
V72I (p.Val72Ile) in CPS1 (P31327) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
V72I (p.Val72Ile) variant details
- p.Val72Ile
- Ensembl rs1697582022
- Missense
- Variant Prioritization Score for Impact Estimate 0.711
- REVEL 0.69
- CADD 23.80
- PolyPhen-2 0.29
- SIFT 0.01
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available