R6C (p.Arg6Cys) variant of CNTNAP2 (Q9UHC6)
R6C (p.Arg6Cys) in CNTNAP2 (Q9UHC6) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
R6C (p.Arg6Cys) variant details
- p.Arg6Cys
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.34
- CADD 23.10
- PolyPhen-2 0.25
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available