W16R (p.Trp16Arg) variant of CNTNAP2 (Q9UHC6)
W16R (p.Trp16Arg) in CNTNAP2 (Q9UHC6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
W16R (p.Trp16Arg) variant details
- p.Trp16Arg
- gnomAD 7-146116922-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.53
- MetaLR 0.42
- MetaSVM -0.48
- CADD 21.90
- PolyPhen-2 0.05
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available