Q38K (p.Gln38Lys) variant of KCNE2 (Q9Y6J6)
Q38K (p.Gln38Lys) in KCNE2 (Q9Y6J6) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
Q38K (p.Gln38Lys) variant details
- p.Gln38Lys
- 1000Genomes rs554011844
- ExAC rs554011844
- TOPMed rs554011844
- gnomAD rs554011844
- Uncertain significance
- not provided; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.39
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.71
- MetaSVM 0.64
- CADD 23.00
- ClinVar: Uncertain significance (not provided; Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available