S27F (p.Ser27Phe) variant of MFN2 (Mitofusin-2)
S27F (p.Ser27Phe) in MFN2 (Mitofusin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
S27F (p.Ser27Phe) variant details
- p.Ser27Phe
- ExAC rs775052063
- gnomAD rs775052063
- Missense
- Variant Prioritization Score for Impact Estimate 0.818
- REVEL 0.84
- CADD 27.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available