M1V (p.Met1Val) variant of FKRP (Q9H9S5)
M1V (p.Met1Val) in FKRP (Q9H9S5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The record also includes published literature and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs587777223
- ClinGen CA150773
- ClinVar RCV000106303
- ClinVar RCV000323348
- Pathogenic
- not provided
- Missense
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical… (PMID 20236121)