I86V (p.Ile86Val) variant of CHM (P24386)
I86V (p.Ile86Val) in CHM (P24386) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
I86V (p.Ile86Val) variant details
- p.Ile86Val
- gnomAD rs1213995486
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.13
- MetaLR 0.17
- MetaSVM -0.91
- CADD 13.20
- PolyPhen-2 0.04
- SIFT 0.22
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available