V300A (p.Val300Ala) variant of FKRP (Q9H9S5)
V300A (p.Val300Ala) in FKRP (Q9H9S5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Walker-Warburg congenital muscular dystrophy; Cardiovascular phenotype; Autosoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
V300A (p.Val300Ala) variant details
- p.Val300Ala
- rs104894691
- ClinGen CA116722
- ClinVar RCV000004453
- ClinVar RCV000732974
- Pathogenic/Likely pathogenic
- Walker-Warburg congenital muscular dystrophy; Cardiovascular phenotype; Autosoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.758
- REVEL 0.87
- CADD 23.70
- PolyPhen-2 0.65
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Walker-Warburg congenital muscular dystrophy; Cardiovascular phe)
- EBI: Pathogenic (in MDDGC5)
- UniProt: Pathogenic (in MDDGC5)
- Most common in the Latino/Admixed American population (allele frequency 0.00033)
- Structural context available
- Cited in: Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum. (PMID 14647208)
- Cited in: Consensus statement on standard of care for congenital muscular dystrophies. (PMID 21078917)