R94W (p.Arg94Trp) variant of PYGM (P11217)
R94W (p.Arg94Trp) in PYGM (P11217) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of PYGM-related disorder; not provided; Glycogen storage disease, type V. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
R94W (p.Arg94Trp) variant details
- p.Arg94Trp
- rs370247862
- ClinGen CA6080314
- ClinVar RCV000557171
- ClinVar RCV001540069
- Pathogenic/Likely pathogenic
- PYGM-related disorder; not provided; Glycogen storage disease, type V
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 28.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (PYGM-related disorder; not provided; Glycogen storage disease, t)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 8.9e-05)
- Structural context available
- Cited in: Glycogen Storage Disease Type V. (PMID 20301518)