L15M (p.Leu15Met) variant of CNTNAP2 (Q9UHC6)
L15M (p.Leu15Met) in CNTNAP2 (Q9UHC6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
L15M (p.Leu15Met) variant details
- p.Leu15Met
- gnomAD 7-146116919-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.26
- MetaLR 0.64
- MetaSVM -0.02
- CADD 22.70
- PolyPhen-2 0.80
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available