R19G (p.Arg19Gly) variant of MFN2 (Mitofusin-2)
R19G (p.Arg19Gly) in MFN2 (Mitofusin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
R19G (p.Arg19Gly) variant details
- p.Arg19Gly
- gnomAD 1-11989223-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- REVEL 0.68
- CADD 24.00
- PolyPhen-2 0.07
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Literature evidence available