K18R (p.Lys18Arg) variant of MFN2 (Mitofusin-2)
K18R (p.Lys18Arg) in MFN2 (Mitofusin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
K18R (p.Lys18Arg) variant details
- p.Lys18Arg
- gnomAD 1-11989221-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.39
- CADD 22.40
- PolyPhen-2 0.01
- SIFT 0.42
- Population evidence available
- Structural context available
- Literature evidence available