T27K (p.Thr27Lys) variant of CNTNAP2 (Q9UHC6)
T27K (p.Thr27Lys) in CNTNAP2 (Q9UHC6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
T27K (p.Thr27Lys) variant details
- p.Thr27Lys
- gnomAD 7-146116956-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.44
- MetaLR 0.45
- MetaSVM -0.34
- CADD 19.40
- PolyPhen-2 0.00
- SIFT 0.35
- Population evidence available
- Structural context available
- Literature evidence available