R34W (p.Arg34Trp) variant of PYGM (P11217)
R34W (p.Arg34Trp) in PYGM (P11217) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Glycogen storage disease, type V; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
R34W (p.Arg34Trp) variant details
- p.Arg34Trp
- rs531748591
- ClinGen CA6080372
- ClinVar RCV001653163
- ClinVar RCV001832839
- Uncertain significance
- Glycogen storage disease, type V; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.709
- REVEL 0.76
- ESM-1b 1.00
- AlphaMissense 0.60
- CADD 27.80
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Glycogen storage disease, type V; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available
- Cited in: Glycogen Storage Disease Type V. (PMID 20301518)