L14M (p.Leu14Met) variant of CNTNAP2 (Q9UHC6)
L14M (p.Leu14Met) in CNTNAP2 (Q9UHC6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
L14M (p.Leu14Met) variant details
- p.Leu14Met
- gnomAD 7-146116916-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.18
- MetaLR 0.43
- MetaSVM -0.66
- CADD 11.70
- PolyPhen-2 0.03
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available