R4H (p.Arg4His) variant of KCNJ11 (Q14654)
R4H (p.Arg4His) in KCNJ11 (Q14654) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
R4H (p.Arg4His) variant details
- p.Arg4His
- rs769283457
- ClinGen CA5902348
- NCI-TCGA Cosmic COSV5684
- ClinVar RCV003236448
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.78
- REVEL 0.76
- CADD 28.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available