T34S (p.Thr34Ser) variant of MFN2 (Mitofusin-2)
T34S (p.Thr34Ser) 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 and structural context.
T34S (p.Thr34Ser) variant details
- p.Thr34Ser
- Ensembl rs1378983806
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- REVEL 0.46
- CADD 17.70
- PolyPhen-2 0.15
- SIFT 0.70
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available