D42E (p.Asp42Glu) variant of KCNE2 (Q9Y6J6)
D42E (p.Asp42Glu) in KCNE2 (Q9Y6J6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
D42E (p.Asp42Glu) variant details
- p.Asp42Glu
- TOPMed rs1439240875
- gnomAD rs1439240875
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.38
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.47
- MetaSVM -0.44
- CADD 4.88
- Most common in the Latino/Admixed American population (allele frequency 8.9e-05)
- Structural context available