M59K (p.Met59Lys) variant of KCNE2 (Q9Y6J6)
M59K (p.Met59Lys) in KCNE2 (Q9Y6J6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
M59K (p.Met59Lys) variant details
- p.Met59Lys
- gnomAD 21-34370654-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.809
- REVEL 0.88
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.81
- MetaSVM 0.78
- CADD 26.70
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available