C23R (p.Cys23Arg) variant of CNTNAP2 (Q9UHC6)
C23R (p.Cys23Arg) in CNTNAP2 (Q9UHC6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
C23R (p.Cys23Arg) variant details
- p.Cys23Arg
- gnomAD 7-146116943-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.51
- MetaLR 0.45
- MetaSVM -0.39
- CADD 22.90
- PolyPhen-2 0.03
- SIFT 0.19
- Population evidence available
- Structural context available
- Literature evidence available