N29K (p.Asn29Lys) variant of KCNE2 (Q9Y6J6)
N29K (p.Asn29Lys) in KCNE2 (Q9Y6J6) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
N29K (p.Asn29Lys) variant details
- p.Asn29Lys
- TOPMed rs1427987437
- gnomAD rs1427987437
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.53
- ESM-1b 0.00
- AlphaMissense 0.56
- MetaLR 0.81
- MetaSVM 0.75
- CADD 23.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available