G151E (p.Gly151Glu) variant of ETFA (P13804)
G151E (p.Gly151Glu) in ETFA (P13804) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes population frequency data and structural context.
G151E (p.Gly151Glu) variant details
- p.Gly151Glu
- TOPMed rs1290718752
- gnomAD rs1290718752
- Missense
- Variant Prioritization Score for Impact Estimate 0.929
- REVEL 0.97
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 33.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available