R77L (p.Arg77Leu) variant of KCNE2 (Q9Y6J6)
R77L (p.Arg77Leu) in KCNE2 (Q9Y6J6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
R77L (p.Arg77Leu) variant details
- p.Arg77Leu
- gnomAD 21-34370708-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.15
- MetaLR 0.37
- MetaSVM -0.72
- CADD 2.53
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available