I14V (p.Ile14Val) variant of CHM (P24386)
I14V (p.Ile14Val) in CHM (P24386) 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.
I14V (p.Ile14Val) variant details
- p.Ile14Val
- Ensembl rs1934694024
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.07
- MetaLR 0.11
- MetaSVM -1.02
- CADD 17.50
- PolyPhen-2 0.00
- SIFT 0.78
- Most common in the East Asian population (allele frequency 3.3e-05)
- Structural context available