Y48C (p.Tyr48Cys) variant of KCNE2 (Q9Y6J6)
Y48C (p.Tyr48Cys) in KCNE2 (Q9Y6J6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
Y48C (p.Tyr48Cys) variant details
- p.Tyr48Cys
- gnomAD 21-34370621-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.589
- REVEL 0.66
- ESM-1b 0.00
- AlphaMissense 0.41
- MetaLR 0.81
- MetaSVM 0.71
- CADD 27.50
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available