W16L (p.Trp16Leu) variant of CNTNAP2 (Q9UHC6)
W16L (p.Trp16Leu) in CNTNAP2 (Q9UHC6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
W16L (p.Trp16Leu) variant details
- p.Trp16Leu
- gnomAD 7-146116923-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.30
- MetaLR 0.33
- MetaSVM -0.65
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.38
- Population evidence available
- Structural context available
- Literature evidence available