G86R (p.Gly86Arg) variant of ETFA (P13804)
G86R (p.Gly86Arg) in ETFA (P13804) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
G86R (p.Gly86Arg) variant details
- p.Gly86Arg
- ESP rs372473532
- ExAC rs372473532
- TOPMed rs372473532
- gnomAD rs372473532
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- REVEL 0.78
- ESM-1b 0.63
- AlphaMissense 0.72
- CADD 23.50
- PolyPhen-2 0.99
- SIFT 0.40
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available