L15W (p.Leu15Trp) variant of CHD2 (O14647)
L15W (p.Leu15Trp) in CHD2 (O14647) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
L15W (p.Leu15Trp) variant details
- p.Leu15Trp
- rs1353693733
- gnomAD 15-92904936-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- CADD 12.90
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available