R24G (p.Arg24Gly) variant of CNTNAP2 (Q9UHC6)
R24G (p.Arg24Gly) in CNTNAP2 (Q9UHC6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
R24G (p.Arg24Gly) variant details
- p.Arg24Gly
- gnomAD 7-146116946-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.45
- MetaLR 0.40
- MetaSVM -0.50
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.56
- Population evidence available
- Structural context available
- Literature evidence available