R19I (p.Arg19Ile) variant of MFN2 (Mitofusin-2)
R19I (p.Arg19Ile) in MFN2 (Mitofusin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
R19I (p.Arg19Ile) variant details
- p.Arg19Ile
- gnomAD 1-11989224-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.7
- REVEL 0.67
- CADD 25.10
- PolyPhen-2 0.10
- SIFT 0.02
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available