K75T (p.Lys75Thr) variant of KCNE2 (Q9Y6J6)
K75T (p.Lys75Thr) in KCNE2 (Q9Y6J6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
K75T (p.Lys75Thr) variant details
- p.Lys75Thr
- gnomAD 21-34370702-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.609
- REVEL 0.77
- ESM-1b 0.00
- AlphaMissense 0.77
- MetaLR 0.86
- MetaSVM 0.91
- CADD 25.10
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available