M23T (p.Met23Thr) variant of KCNE2 (Q9Y6J6)
M23T (p.Met23Thr) in KCNE2 (Q9Y6J6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
M23T (p.Met23Thr) variant details
- p.Met23Thr
- gnomAD rs1280448748
- Missense
- Variant Prioritization Score for Impact Estimate 0.685
- REVEL 0.83
- ESM-1b 0.00
- AlphaMissense 0.43
- MetaLR 0.81
- MetaSVM 0.80
- CADD 23.70
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available