Q2L (p.Gln2Leu) variant of CNTNAP2 (Q9UHC6)
Q2L (p.Gln2Leu) in CNTNAP2 (Q9UHC6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
Q2L (p.Gln2Leu) variant details
- p.Gln2Leu
- gnomAD 7-146116881-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.22
- MetaLR 0.33
- MetaSVM -0.77
- CADD 15.50
- PolyPhen-2 0.00
- SIFT 0.33
- Population evidence available
- Structural context available
- Literature evidence available