L15Q (p.Leu15Gln) variant of CHD2 (O14647)
L15Q (p.Leu15Gln) in CHD2 (O14647) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
L15Q (p.Leu15Gln) variant details
- p.Leu15Gln
- gnomAD 15-92905003-ACT-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.326
- CADD 14.30
- Most common in the Non-Finnish European population (allele frequency 9.3e-06)
- Structural context available
- Literature evidence available