E38K (p.Glu38Lys) variant of CHD2 (O14647)
E38K (p.Glu38Lys) in CHD2 (O14647) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
E38K (p.Glu38Lys) variant details
- p.Glu38Lys
- rs2052526498
- gnomAD 15-92901344-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.381
- CADD 11.20
- Most common in the South Asian population (allele frequency 1.4e-05)
- Structural context available
- Literature evidence available