T3I (p.Thr3Ile) variant of KCNE2 (Q9Y6J6)
T3I (p.Thr3Ile) in KCNE2 (Q9Y6J6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
T3I (p.Thr3Ile) variant details
- p.Thr3Ile
- gnomAD 21-34370486-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.41
- MetaSVM -0.68
- CADD 9.24
- Population evidence available
- Structural context available
- Literature evidence available