T30P (p.Thr30Pro) variant of KCNE2 (Q9Y6J6)
T30P (p.Thr30Pro) in KCNE2 (Q9Y6J6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
T30P (p.Thr30Pro) variant details
- p.Thr30Pro
- gnomAD rs1307670975
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.42
- ESM-1b 0.00
- AlphaMissense 0.38
- MetaLR 0.61
- MetaSVM 0.22
- CADD 23.20
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available