I67V (p.Ile67Val) variant of KCNE2 (Q9Y6J6)
I67V (p.Ile67Val) in KCNE2 (Q9Y6J6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
I67V (p.Ile67Val) variant details
- p.Ile67Val
- gnomAD 21-34370677-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- REVEL 0.57
- ESM-1b 0.00
- AlphaMissense 0.14
- MetaLR 0.82
- MetaSVM 0.73
- CADD 23.50
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available