Q38H (p.Gln38His) variant of KCNE2 (Q9Y6J6)
Q38H (p.Gln38His) in KCNE2 (Q9Y6J6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
Q38H (p.Gln38His) variant details
- p.Gln38His
- TOPMed rs1446756364
- gnomAD rs1446756364
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.42
- ESM-1b 0.16
- AlphaMissense 0.26
- MetaLR 0.76
- MetaSVM 0.35
- CADD 17.00
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available