E10K (p.Glu10Lys) variant of CHD2 (O14647)
E10K (p.Glu10Lys) in CHD2 (O14647) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
E10K (p.Glu10Lys) variant details
- p.Glu10Lys
- ExAC rs748824933
- gnomAD rs748824933
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.33
- MetaLR 0.52
- MetaSVM -0.30
- CADD 25.10
- PolyPhen-2 0.03
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available