Y105C (p.Tyr105Cys) variant of ETFA (P13804)
Y105C (p.Tyr105Cys) in ETFA (P13804) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
Y105C (p.Tyr105Cys) variant details
- p.Tyr105Cys
- TOPMed rs1176787557
- gnomAD rs1176787557
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- REVEL 0.73
- ESM-1b 1.00
- AlphaMissense 0.47
- CADD 29.10
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available