M1V (p.Met1Val) variant of MFN2 (Mitofusin-2)
M1V (p.Met1Val) in MFN2 (Mitofusin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs1557515730
- ClinGen CA338459022
- ClinVar RCV000711272
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.883
- MetaLR 0.93
- MetaSVM 1.01
- PolyPhen-2 0.32
- SIFT 0.00
- MutPred 0.98
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available