A8E (p.Ala8Glu) variant of KCNE1 (P15382)
A8E (p.Ala8Glu) in KCNE1 (P15382) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in LQT5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A8E (p.Ala8Glu) variant details
- p.Ala8Glu
- ESP rs199473348
- ExAC rs199473348
- gnomAD rs199473348
- Uncertain significance
- in LQT5
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.56
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 9.48
- PolyPhen-2 0.03
- SIFT 0.04
- EBI: Variant of uncertain significance (in LQT5)
- UniProt: Uncertain significance (in LQT5)
- Population evidence available
- Structural context available
- Functional MAVE scores for KCNE1: score 1.39