N45D (p.Asn45Asp) variant of KCNE2 (Q9Y6J6)
N45D (p.Asn45Asp) in KCNE2 (Q9Y6J6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
N45D (p.Asn45Asp) variant details
- p.Asn45Asp
- TOPMed rs1429248689
- gnomAD rs1429248689
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- REVEL 0.56
- ESM-1b 0.00
- AlphaMissense 0.28
- MetaLR 0.83
- MetaSVM 0.82
- CADD 24.60
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available