E443K (p.Glu443Lys) variant of FKRP (Q9H9S5)
E443K (p.Glu443Lys) 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 0.75 / 1. The record also includes population frequency data and structural context.
E443K (p.Glu443Lys) variant details
- p.Glu443Lys
- rs1318972801
- ClinGen CA406497140
- cosmic curated COSV59358
- ClinVar RCV003107986
- Likely pathogenic
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
- Missense
- Variant Prioritization Score for Impact Estimate 0.75
- REVEL 0.71
- CADD 29.90
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Likely pathogenic (Muscular dystrophy-dystroglycanopathy (congenital with brain and)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available