R76K (p.Arg76Lys) variant of KCNE2 (Q9Y6J6)
R76K (p.Arg76Lys) in KCNE2 (Q9Y6J6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
R76K (p.Arg76Lys) variant details
- p.Arg76Lys
- ExAC rs748194563
- gnomAD rs748194563
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- REVEL 0.46
- ESM-1b 0.00
- AlphaMissense 0.28
- MetaLR 0.57
- MetaSVM 0.16
- CADD 22.20
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available