T27M (p.Thr27Met) variant of CNTNAP2 (Q9UHC6)
T27M (p.Thr27Met) in CNTNAP2 (Q9UHC6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
T27M (p.Thr27Met) variant details
- p.Thr27Met
- gnomAD 7-146116956-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.41
- MetaLR 0.45
- MetaSVM -0.24
- CADD 20.00
- PolyPhen-2 0.01
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available