M1V (p.Met1Val) variant of FTO (Q9C0B1)
M1V (p.Met1Val) in FTO (Q9C0B1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Lethal polymalformative syndrome, Boissel type. The record also includes variant effect predictions, population frequency data, and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs534074284
- ClinGen CA281381703
- ClinVar RCV003143427
- Uncertain significance
- Lethal polymalformative syndrome, Boissel type
- Missense
- MetaLR 0.39
- MetaSVM -0.21
- PolyPhen-2 0.85
- SIFT 0.00
- MutPred 0.54
- ClinVar: Uncertain significance (Lethal polymalformative syndrome, Boissel type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available