T31R (p.Thr31Arg) variant of KCNE2 (Q9Y6J6)
T31R (p.Thr31Arg) in KCNE2 (Q9Y6J6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
T31R (p.Thr31Arg) variant details
- p.Thr31Arg
- ExAC rs757208768
- gnomAD rs757208768
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- REVEL 0.62
- ESM-1b 0.00
- AlphaMissense 0.22
- MetaLR 0.86
- MetaSVM 0.89
- CADD 23.40
- Most common in the South Asian population (allele frequency 0.0001)
- Structural context available