L15I (p.Leu15Ile) variant of CHD2 (O14647)
L15I (p.Leu15Ile) in CHD2 (O14647) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
L15I (p.Leu15Ile) variant details
- p.Leu15Ile
- gnomAD 15-92901307-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.688
- CADD 16.20
- Population evidence available
- Structural context available
- Literature evidence available