V18F (p.Val18Phe) variant of CNTNAP2 (Q9UHC6)
V18F (p.Val18Phe) in CNTNAP2 (Q9UHC6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
V18F (p.Val18Phe) variant details
- p.Val18Phe
- gnomAD 7-146116928-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.23
- MetaLR 0.36
- MetaSVM -0.80
- CADD 11.50
- PolyPhen-2 0.00
- SIFT 0.83
- Population evidence available
- Structural context available
- Literature evidence available