R54H (p.Arg54His) variant of KCNB1 (Q14721)
R54H (p.Arg54His) in KCNB1 (Q14721) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Developmental and epileptic encephalopathy, 26. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
R54H (p.Arg54His) variant details
- p.Arg54His
- NCI-TCGA Cosmic COSV6556
- cosmic curated COSV65568
- Uncertain significance
- Developmental and epileptic encephalopathy, 26
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- REVEL 0.47
- CADD 24.10
- PolyPhen-2 0.46
- SIFT 0.55
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 26)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available