E38R (p.Glu38Arg) variant of CHD2 (O14647)
E38R (p.Glu38Arg) in CHD2 (O14647) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
E38R (p.Glu38Arg) variant details
- p.Glu38Arg
- rs2035917320
- gnomAD 15-92901339-T-TG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.149
- CADD 9.69
- Most common in the Non-Finnish European population (allele frequency 2.5e-06)
- Structural context available
- Literature evidence available