R16G (p.Arg16Gly) variant of KCNE2 (Q9Y6J6)
R16G (p.Arg16Gly) in KCNE2 (Q9Y6J6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
R16G (p.Arg16Gly) variant details
- p.Arg16Gly
- gnomAD 21-34370524-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.47
- MetaSVM -0.53
- CADD 9.06
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available