R29C (p.Arg29Cys) variant of KCNJ11 (Q14654)
R29C (p.Arg29Cys) in KCNJ11 (Q14654) 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 0.52 / 1. The record also includes population frequency data and structural context.
R29C (p.Arg29Cys) variant details
- p.Arg29Cys
- rs751424820
- NCI-TCGA Cosmic COSV5685
- ExAC rs751424820
- TOPMed rs751424820
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- REVEL 0.45
- CADD 25.30
- PolyPhen-2 0.85
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available