M23V (p.Met23Val) variant of KCNE2 (Q9Y6J6)
M23V (p.Met23Val) in KCNE2 (Q9Y6J6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
M23V (p.Met23Val) variant details
- p.Met23Val
- gnomAD 21-34370545-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- REVEL 0.70
- ESM-1b 0.00
- AlphaMissense 0.20
- MetaLR 0.73
- MetaSVM 0.77
- CADD 23.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available