A11E (p.Ala11Glu) variant of CNTNAP2 (Q9UHC6)
A11E (p.Ala11Glu) in CNTNAP2 (Q9UHC6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
A11E (p.Ala11Glu) variant details
- p.Ala11Glu
- gnomAD 7-146116908-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- REVEL 0.49
- MetaLR 0.64
- MetaSVM 0.18
- CADD 23.60
- PolyPhen-2 0.97
- SIFT 0.28
- Population evidence available
- Structural context available
- Literature evidence available