A12E (p.Ala12Glu) variant of CNTNAP2 (Q9UHC6)
A12E (p.Ala12Glu) in CNTNAP2 (Q9UHC6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
A12E (p.Ala12Glu) variant details
- p.Ala12Glu
- gnomAD 7-146116911-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.45
- MetaLR 0.39
- MetaSVM -0.40
- CADD 16.80
- PolyPhen-2 0.15
- SIFT 0.52
- Population evidence available
- Structural context available
- Literature evidence available