Q102E (p.Gln102Glu) variant of ETFA (P13804)
Q102E (p.Gln102Glu) in ETFA (P13804) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
Q102E (p.Gln102Glu) variant details
- p.Gln102Glu
- TOPMed rs1431770017
- gnomAD rs1431770017
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 21.70
- PolyPhen-2 0.01
- SIFT 0.18
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available