T55F (p.Thr55Phe) variant of MFN2 (Mitofusin-2)
T55F (p.Thr55Phe) in MFN2 (Mitofusin-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
T55F (p.Thr55Phe) variant details
- p.Thr55Phe
- rs1557516145
- gnomAD 1-11989329-C-CCTT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.77
- CADD 26.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available