A39T (p.Ala39Thr) variant of KCNE2 (Q9Y6J6)
A39T (p.Ala39Thr) in KCNE2 (Q9Y6J6) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
A39T (p.Ala39Thr) variant details
- p.Ala39Thr
- gnomAD rs1316451468
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.65
- MetaSVM 0.25
- CADD 21.80
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available