A3E (p.Ala3Glu) variant of CNTNAP2 (Q9UHC6)
A3E (p.Ala3Glu) in CNTNAP2 (Q9UHC6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
A3E (p.Ala3Glu) variant details
- p.Ala3Glu
- gnomAD 7-146116884-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.23
- MetaLR 0.33
- MetaSVM -0.69
- CADD 3.31
- PolyPhen-2 0.01
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available