R19K (p.Arg19Lys) variant of MFN2 (Mitofusin-2)
R19K (p.Arg19Lys) in MFN2 (Mitofusin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
R19K (p.Arg19Lys) variant details
- p.Arg19Lys
- gnomAD 1-11989224-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- REVEL 0.44
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.46
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available
- Literature evidence available