I22V (p.Ile22Val) variant of CHM (P24386)
I22V (p.Ile22Val) in CHM (P24386) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
I22V (p.Ile22Val) variant details
- p.Ile22Val
- TOPMed rs954178323
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.23
- MetaLR 0.48
- MetaSVM -0.41
- CADD 15.60
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 2.4e-06)
- Structural context available