N463D (p.Asn463Asp) variant of FKRP (Q9H9S5)
N463D (p.Asn463Asp) in FKRP (Q9H9S5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiovascular phenotype; Muscular dystrophy; Walker-Warburg congenital muscular. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
N463D (p.Asn463Asp) variant details
- p.Asn463Asp
- rs121908110
- ClinGen CA116728
- ClinVar RCV000178346
- ClinVar RCV000194089
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Muscular dystrophy; Walker-Warburg congenital muscular
- Missense
- Variant Prioritization Score for Impact Estimate 0.784
- REVEL 0.89
- CADD 25.80
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Muscular dystrophy; Walker-Warburg con)
- EBI: Pathogenic (in MDDGB5)
- UniProt: Pathogenic (in MDDGB5)
- Most common in the Latino/Admixed American population (allele frequency 0.0002)
- Structural context available
- Cited in: A novel FKRP mutation in congenital muscular dystrophy disrupts the dystrophin glycoprotein complex. (PMID 17336067)
- Cited in: Consensus statement on standard of care for congenital muscular dystrophies. (PMID 21078917)