I73M (p.Ile73Met) variant of ETFA (P13804)
I73M (p.Ile73Met) in ETFA (P13804) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
I73M (p.Ile73Met) variant details
- p.Ile73Met
- 1000Genomes rs928797006
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.51
- ESM-1b 1.00
- AlphaMissense 0.25
- CADD 20.70
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available