E8G (p.Glu8Gly) variant of CHM (P24386)
E8G (p.Glu8Gly) in CHM (P24386) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
E8G (p.Glu8Gly) variant details
- p.Glu8Gly
- gnomAD rs1243229832
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.29
- MetaLR 0.31
- MetaSVM -0.37
- CADD 27.40
- PolyPhen-2 0.49
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available