E10V (p.Glu10Val) variant of CHD2 (O14647)
E10V (p.Glu10Val) in CHD2 (O14647) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
E10V (p.Glu10Val) variant details
- p.Glu10Val
- gnomAD rs1472693863
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.32
- MetaLR 0.50
- MetaSVM -0.28
- CADD 24.50
- PolyPhen-2 0.01
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available