R312G (p.Arg312Gly) variant of FKRP (Q9H9S5)
R312G (p.Arg312Gly) in FKRP (Q9H9S5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Cardiovascular phenotype; Walker-Warburg congenital muscular dyst. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
R312G (p.Arg312Gly) variant details
- p.Arg312Gly
- rs2054923228
- ClinGen CA406496314
- ClinVar RCV002593065
- ClinVar RCV003224635
- Conflicting interpretations
- not specified; Cardiovascular phenotype; Walker-Warburg congenital muscular dyst
- Missense
- Variant Prioritization Score for Impact Estimate 0.86
- AlphaMissense 0.93
- MetaLR 0.89
- MetaSVM 0.97
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.87
- ClinVar: Conflicting classifications of pathogenicity (not specified; Cardiovascular phenotype; Walker-Warburg congenit)
- EBI: Likely pathogenic (in MDDGC5)
- UniProt: Likely pathogenic (in MDDGC5)
- Structural context available
- Cited in: Consensus statement on standard of care for congenital muscular dystrophies. (PMID 21078917)