L15F (p.Leu15Phe) variant of CHD2 (O14647)
L15F (p.Leu15Phe) in CHD2 (O14647) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
L15F (p.Leu15Phe) variant details
- p.Leu15Phe
- rs920434931
- gnomAD 15-92901322-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- CADD 18.30
- Most common in the Middle Eastern population (allele frequency 0.00036)
- Structural context available
- Literature evidence available