T314M (p.Thr314Met) variant of FKRP (Q9H9S5)
T314M (p.Thr314Met) in FKRP (Q9H9S5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of FKRP-related disorder; Walker-Warburg congenital muscular dystrophy; not provide. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
T314M (p.Thr314Met) variant details
- p.Thr314Met
- rs398124395
- ClinGen CA202828
- ClinVar RCV000082183
- ClinVar RCV000178344
- Pathogenic
- FKRP-related disorder; Walker-Warburg congenital muscular dystrophy; not provide
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- REVEL 0.81
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (FKRP-related disorder; Walker-Warburg congenital muscular dystro)
- EBI: Pathogenic (in MDDGC5)
- UniProt: Pathogenic (in MDDGC5)
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available
- Cited in: Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular… (PMID 30345904)
- Cited in: Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic… (PMID 11741828)