I36V (p.Ile36Val) variant of CPS1 (P31327)
I36V (p.Ile36Val) in CPS1 (P31327) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
I36V (p.Ile36Val) variant details
- p.Ile36Val
- Ensembl rs1559074882
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.30
- CADD 11.80
- PolyPhen-2 0.00
- SIFT 0.63
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available