T30K (p.Thr30Lys) variant of KCNE2 (Q9Y6J6)
T30K (p.Thr30Lys) in KCNE2 (Q9Y6J6) 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 0.33 / 1. The record also includes population frequency data and structural context.
T30K (p.Thr30Lys) variant details
- p.Thr30Lys
- ExAC rs772975913
- TOPMed rs772975913
- gnomAD rs772975913
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.34
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.56
- MetaSVM -0.29
- CADD 12.50
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available