R31W (p.Arg31Trp) variant of KCNB1 (Q14721)
R31W (p.Arg31Trp) in KCNB1 (Q14721) is a missense change. Clinical records from ClinVar, EBI, 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 0.61 / 1. The record also includes population frequency data and structural context.
R31W (p.Arg31Trp) variant details
- p.Arg31Trp
- rs1276745544
- cosmic curated COSV10820
- ClinGen CA408952003
- ClinVar RCV002828145
- Uncertain significance
- Developmental and epileptic encephalopathy, 26
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- REVEL 0.81
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 26)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available