S19R (p.Ser19Arg) variant of CNTNAP2 (Q9UHC6)
S19R (p.Ser19Arg) in CNTNAP2 (Q9UHC6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
S19R (p.Ser19Arg) variant details
- p.Ser19Arg
- gnomAD 7-146116931-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.36
- MetaLR 0.35
- MetaSVM -0.66
- CADD 16.20
- PolyPhen-2 0.15
- SIFT 0.47
- Population evidence available
- Structural context available
- Literature evidence available