R8C (p.Arg8Cys) variant of KCNT1 (Q5JUK3)
R8C (p.Arg8Cys) in KCNT1 (Q5JUK3) 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 0.56 / 1. The record also includes population frequency data and structural context.
R8C (p.Arg8Cys) variant details
- p.Arg8Cys
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- CADD 17.60
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available