R6G (p.Arg6Gly) variant of CNTNAP2 (Q9UHC6)
R6G (p.Arg6Gly) in CNTNAP2 (Q9UHC6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cortical dysplasia-focal epilepsy syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
R6G (p.Arg6Gly) variant details
- p.Arg6Gly
- rs1584757095
- ClinGen CA369922004
- ClinVar RCV000803850
- NCI-TCGA TCGA novel
- Uncertain significance
- Cortical dysplasia-focal epilepsy syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.18
- CADD 18.60
- PolyPhen-2 0.00
- SIFT 0.15
- ClinVar: Uncertain significance (Cortical dysplasia-focal epilepsy syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.7e-06)
- Structural context available