Q100E (p.Gln100Glu) variant of ETFA (P13804)
Q100E (p.Gln100Glu) in ETFA (P13804) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
Q100E (p.Gln100Glu) variant details
- p.Gln100Glu
- ExAC rs752795330
- gnomAD rs752795330
- Missense
- Variant Prioritization Score for Impact Estimate 0.706
- REVEL 0.66
- ESM-1b 1.00
- AlphaMissense 0.22
- CADD 22.90
- PolyPhen-2 0.70
- SIFT 0.83
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available