R50Q (p.Arg50Gln) variant of PYGM (P11217)
R50Q (p.Arg50Gln) in PYGM (P11217) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Glycogen storage disease, type V. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
R50Q (p.Arg50Gln) variant details
- p.Arg50Gln
- rs758175735
- ClinGen CA6080358
- cosmic curated COSV51223
- ClinVar RCV001242840
- Uncertain significance
- Inborn genetic diseases; Glycogen storage disease, type V
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.54
- ESM-1b 0.00
- AlphaMissense 0.36
- CADD 22.30
- PolyPhen-2 0.09
- SIFT 0.06
- ClinVar: Uncertain significance (Inborn genetic diseases; Glycogen storage disease, type V)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- 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)