S221R (p.Ser221Arg) variant of FKRP (Q9H9S5)
S221R (p.Ser221Arg) in FKRP (Q9H9S5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies). The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
S221R (p.Ser221Arg) variant details
- p.Ser221Arg
- rs28937902
- ClinGen CA116708
- ClinVar RCV000004446
- ClinVar RCV003460428
- Likely pathogenic
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
- Missense
- Variant Prioritization Score for Impact Estimate 0.65
- REVEL 0.75
- CADD 23.50
- PolyPhen-2 0.83
- SIFT 0.01
- ClinVar: Likely pathogenic (Muscular dystrophy-dystroglycanopathy (congenital with brain and)
- EBI: Pathogenic (in MDDGB5)
- UniProt: Pathogenic (in MDDGB5)
- Population evidence available
- Structural context available
- Cited in: FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts. (PMID 12654965)
- Cited in: Crystal structures of fukutin-related protein (FKRP), a ribitol-phosphate transferase related to muscular dystrophy. (PMID 31949166)