R76G (p.Arg76Gly) variant of KCNE2 (Q9Y6J6)
R76G (p.Arg76Gly) in KCNE2 (Q9Y6J6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
R76G (p.Arg76Gly) variant details
- p.Arg76Gly
- gnomAD 21-34370704-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- REVEL 0.72
- ESM-1b 0.00
- AlphaMissense 0.82
- MetaLR 0.80
- MetaSVM 0.71
- CADD 19.50
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available