A36T (p.Ala36Thr) variant of KCNE2 (Q9Y6J6)
A36T (p.Ala36Thr) in KCNE2 (Q9Y6J6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
A36T (p.Ala36Thr) variant details
- p.Ala36Thr
- 1000Genomes rs2123423704
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.66
- MetaSVM 0.04
- CADD 23.10
- Most common in the 1KG:ESN population (allele frequency 0.0049)
- Structural context available