R76S (p.Arg76Ser) variant of KCNE2 (Q9Y6J6)
R76S (p.Arg76Ser) in KCNE2 (Q9Y6J6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
R76S (p.Arg76Ser) variant details
- p.Arg76Ser
- gnomAD 21-34370706-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.65
- ESM-1b 0.00
- AlphaMissense 0.94
- MetaLR 0.74
- MetaSVM 0.48
- CADD 16.70
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available