R6H (p.Arg6His) variant of CNTNAP2 (Q9UHC6)
R6H (p.Arg6His) in CNTNAP2 (Q9UHC6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
R6H (p.Arg6His) variant details
- p.Arg6His
- rs2116710944
- ClinGen CA369922006
- ClinVar RCV001757742
- Ensembl rs2116710944
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.21
- CADD 23.10
- PolyPhen-2 0.20
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available