R339H (p.Arg339His) variant of FKRP (Q9H9S5)
R339H (p.Arg339His) in FKRP (Q9H9S5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; Walker-Warburg congenital muscular dystrophy; not spec. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
R339H (p.Arg339His) variant details
- p.Arg339His
- rs1450841129
- ClinGen CA406496474
- ClinVar RCV000674783
- ClinVar RCV000735132
- Conflicting interpretations
- Cardiovascular phenotype; Walker-Warburg congenital muscular dystrophy; not spec
- Missense
- Variant Prioritization Score for Impact Estimate 0.835
- REVEL 0.84
- AlphaMissense 0.93
- MetaLR 0.82
- MetaSVM 0.80
- CADD 29.90
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Walker-Warburg congenital muscular dys)
- EBI: Pathogenic (in MDDGB5)
- UniProt: Pathogenic (in MDDGB5)
- Most common in the Non-Finnish European population (allele frequency 6.4e-06)
- Structural context available
- Cited in: Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary… (PMID 11592034)
- Cited in: Phenotypic spectrum associated with mutations in the fukutin-related protein gene. (PMID 12666124)