H37R (p.His37Arg) variant of PYGM (P11217)
H37R (p.His37Arg) in PYGM (P11217) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Glycogen storage disease, type V. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
H37R (p.His37Arg) variant details
- p.His37Arg
- rs1170598133
- ClinGen CA381112828
- ClinVar RCV001542478
- gnomAD rs1170598133
- Likely pathogenic
- Glycogen storage disease, type V
- Missense
- Variant Prioritization Score for Impact Estimate 0.731
- REVEL 0.75
- ESM-1b 1.00
- AlphaMissense 0.96
- CADD 23.90
- PolyPhen-2 0.75
- SIFT 0.20
- ClinVar: Likely pathogenic (Glycogen storage disease, type V)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available
- Cited in: Glycogen Storage Disease Type V. (PMID 20301518)