R3W (p.Arg3Trp) variant of PYGM (P11217)
R3W (p.Arg3Trp) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
R3W (p.Arg3Trp) variant details
- p.Arg3Trp
- rs199565370
- ClinGen CA6080396
- ClinVar RCV001105035
- ClinVar RCV003346318
- Uncertain significance
- Glycogen storage disease, type V; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- REVEL 0.53
- ESM-1b 1.00
- AlphaMissense 0.24
- CADD 28.30
- PolyPhen-2 0.59
- SIFT 0.00
- ClinVar: Uncertain significance (Glycogen storage disease, type V; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CDX population (allele frequency 0.0057)
- Structural context available
- Cited in: Glycogen Storage Disease Type V. (PMID 20301518)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)