R3H (p.Arg3His) variant of CHD2 (O14647)
R3H (p.Arg3His) in CHD2 (O14647) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
R3H (p.Arg3His) variant details
- p.Arg3His
- rs1261735474
- gnomAD 15-92904969-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- CADD 4.58
- SIFT 0.63
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available
- Literature evidence available