R25C (p.Arg25Cys) variant of KCNB1 (Q14721)
R25C (p.Arg25Cys) in KCNB1 (Q14721) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
R25C (p.Arg25Cys) variant details
- p.Arg25Cys
- cosmic curated COSV65566
- TOPMed rs1479362052
- gnomAD rs1479362052
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.761
- REVEL 0.72
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available