G47R (p.Gly47Arg) variant of MFN2 (Mitofusin-2)
G47R (p.Gly47Arg) in MFN2 (Mitofusin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
G47R (p.Gly47Arg) variant details
- p.Gly47Arg
- Ensembl rs1638569609
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- REVEL 0.45
- CADD 22.10
- PolyPhen-2 0.00
- SIFT 0.52
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available