S20R (p.Ser20Arg) variant of CNTNAP2 (Q9UHC6)
S20R (p.Ser20Arg) in CNTNAP2 (Q9UHC6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
S20R (p.Ser20Arg) variant details
- p.Ser20Arg
- gnomAD 7-146116936-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.41
- MetaLR 0.44
- MetaSVM -0.10
- CADD 18.20
- PolyPhen-2 0.21
- SIFT 0.37
- Population evidence available
- Structural context available
- Literature evidence available