L51V (p.Leu51Val) variant of KCNE2 (Q9Y6J6)
L51V (p.Leu51Val) in KCNE2 (Q9Y6J6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
L51V (p.Leu51Val) variant details
- p.Leu51Val
- gnomAD rs1447716899
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.58
- ESM-1b 0.00
- AlphaMissense 0.24
- MetaLR 0.72
- MetaSVM 0.34
- CADD 7.46
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available