R16* (p.Arg16Ter) variant of KCNE2 (Q9Y6J6)
R16* (p.Arg16Ter) in KCNE2 (Q9Y6J6) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
R16* (p.Arg16Ter) variant details
- p.Arg16Ter
- rs779306606
- ClinGen CA10013392
- ClinVar RCV001313654
- ClinVar RCV001751600
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.3
- CADD 31.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Cited in: Long QT Syndrome Overview. (PMID 20301308)