T31M (p.Thr31Met) variant of CNTNAP2 (Q9UHC6)
T31M (p.Thr31Met) in CNTNAP2 (Q9UHC6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
T31M (p.Thr31Met) variant details
- p.Thr31Met
- gnomAD 7-146116968-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.20
- MetaLR 0.46
- MetaSVM -0.37
- CADD 23.10
- PolyPhen-2 0.06
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available