I67N (p.Ile67Asn) variant of KCNE2 (Q9Y6J6)
I67N (p.Ile67Asn) in KCNE2 (Q9Y6J6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
I67N (p.Ile67Asn) variant details
- p.Ile67Asn
- gnomAD 21-34370678-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.793
- REVEL 0.83
- ESM-1b 0.83
- AlphaMissense 0.84
- MetaLR 0.90
- MetaSVM 1.00
- CADD 28.20
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available