T31I (p.Thr31Ile) variant of KCNE2 (Q9Y6J6)
T31I (p.Thr31Ile) in KCNE2 (Q9Y6J6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
T31I (p.Thr31Ile) variant details
- p.Thr31Ile
- ExAC rs757208768
- gnomAD rs757208768
- Missense
- Variant Prioritization Score for Impact Estimate 0.625
- REVEL 0.59
- ESM-1b 0.00
- AlphaMissense 0.45
- MetaLR 0.86
- MetaSVM 0.89
- CADD 23.50
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available