T31K (p.Thr31Lys) variant of CNTNAP2 (Q9UHC6)
T31K (p.Thr31Lys) in CNTNAP2 (Q9UHC6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
T31K (p.Thr31Lys) variant details
- p.Thr31Lys
- gnomAD 7-146116968-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.19
- MetaLR 0.46
- MetaSVM -0.51
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.25
- Population evidence available
- Structural context available
- Literature evidence available