Q2P (p.Gln2Pro) variant of CNTNAP2 (Q9UHC6)
Q2P (p.Gln2Pro) in CNTNAP2 (Q9UHC6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
Q2P (p.Gln2Pro) variant details
- p.Gln2Pro
- gnomAD 7-146116881-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.20
- MetaLR 0.40
- MetaSVM -0.69
- CADD 15.10
- PolyPhen-2 0.00
- SIFT 0.28
- Population evidence available
- Structural context available
- Literature evidence available