I57V (p.Ile57Val) variant of KCNE2 (Q9Y6J6)
I57V (p.Ile57Val) in KCNE2 (Q9Y6J6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
I57V (p.Ile57Val) variant details
- p.Ile57Val
- gnomAD 21-34370647-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.52
- ESM-1b 0.00
- AlphaMissense 0.17
- MetaLR 0.68
- MetaSVM 0.43
- CADD 23.20
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available