P316S (p.Pro316Ser) variant of FKRP (Q9H9S5)
P316S (p.Pro316Ser) in FKRP (Q9H9S5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Walker-Warburg congenital muscular dystrophy; not provided; Muscular dystrophy-d. 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.
P316S (p.Pro316Ser) variant details
- p.Pro316Ser
- rs28937901
- ClinGen CA245434
- ClinVar RCV000178358
- ClinVar RCV000670956
- Conflicting interpretations
- Walker-Warburg congenital muscular dystrophy; not provided; Muscular dystrophy-d
- Missense
- Variant Prioritization Score for Impact Estimate 0.839
- REVEL 0.90
- CADD 23.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Walker-Warburg congenital muscular dystrophy; not provided; Musc)
- EBI: Pathogenic (in MDDGC5)
- UniProt: Pathogenic (in MDDGC5)
- Most common in the REMAINING population (allele frequency 3.4e-05)
- Structural context available
- Cited in: Phenotypic spectrum associated with mutations in the fukutin-related protein gene. (PMID 12666124)
- Cited in: Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic… (PMID 11741828)