R86I (p.Arg86Ile) variant of MFN2 (Mitofusin-2)
R86I (p.Arg86Ile) in MFN2 (Mitofusin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
R86I (p.Arg86Ile) variant details
- p.Arg86Ile
- gnomAD 1-11992636-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.36
- MetaLR 0.73
- MetaSVM 0.11
- CADD 23.00
- PolyPhen-2 0.02
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available