A4E (p.Ala4Glu) variant of ETFA (P13804)
A4E (p.Ala4Glu) in ETFA (P13804) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
A4E (p.Ala4Glu) variant details
- p.Ala4Glu
- ExAC rs761552468
- TOPMed rs761552468
- gnomAD rs761552468
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- REVEL 0.31
- ESM-1b 1.00
- AlphaMissense 0.18
- CADD 14.90
- PolyPhen-2 0.00
- SIFT 0.06
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.0001)
- Structural context available