I50M (p.Ile50Met) variant of KCNE2 (Q9Y6J6)
I50M (p.Ile50Met) in KCNE2 (Q9Y6J6) is a missense change. 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.
I50M (p.Ile50Met) variant details
- p.Ile50Met
- ExAC rs747232176
- gnomAD rs747232176
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.51
- ESM-1b 0.00
- AlphaMissense 0.20
- MetaLR 0.81
- MetaSVM 0.75
- CADD 23.40
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available