Q20H (p.Gln20His) variant of ETFA (P13804)
Q20H (p.Gln20His) in ETFA (P13804) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
Q20H (p.Gln20His) variant details
- p.Gln20His
- TOPMed rs13380190
- gnomAD rs13380190
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.27
- CADD 17.50
- PolyPhen-2 0.37
- SIFT 0.10
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available