Y105H (p.Tyr105His) variant of ETFA (P13804)
Y105H (p.Tyr105His) in ETFA (P13804) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
Y105H (p.Tyr105His) variant details
- p.Tyr105His
- TOPMed rs1377162985
- gnomAD rs1377162985
- Missense
- Variant Prioritization Score for Impact Estimate 0.667
- REVEL 0.68
- ESM-1b 1.00
- AlphaMissense 0.71
- CADD 26.70
- PolyPhen-2 0.97
- SIFT 0.05
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available