E91Q (p.Glu91Gln) variant of ETFA (P13804)
E91Q (p.Glu91Gln) in ETFA (P13804) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
E91Q (p.Glu91Gln) variant details
- p.Glu91Gln
- gnomAD rs2039776083
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- REVEL 0.54
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 23.80
- PolyPhen-2 0.56
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available