C60Y (p.Cys60Tyr) variant of ETFA (P13804)
C60Y (p.Cys60Tyr) in ETFA (P13804) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
C60Y (p.Cys60Tyr) variant details
- p.Cys60Tyr
- TOPMed rs1282015660
- gnomAD rs1282015660
- Missense
- Variant Prioritization Score for Impact Estimate 0.784
- REVEL 0.72
- ESM-1b 1.00
- AlphaMissense 0.83
- CADD 28.20
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available