L15C (p.Leu15Cys) variant of CHD2 (O14647)
L15C (p.Leu15Cys) in CHD2 (O14647) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
L15C (p.Leu15Cys) variant details
- p.Leu15Cys
- rs1206335333
- gnomAD 15-92904940-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.115
- CADD 4.80
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available