G136S (p.Gly136Ser) variant of PYGM (P11217)
G136S (p.Gly136Ser) 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 specified; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
G136S (p.Gly136Ser) variant details
- p.Gly136Ser
- rs1246112610
- ClinGen CA381109629
- ClinVar RCV003135183
- ClinVar RCV005406636
- Uncertain significance
- Glycogen storage disease, type V; not specified; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.911
- REVEL 0.97
- ESM-1b 1.00
- AlphaMissense 0.96
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Glycogen storage disease, type V; not specified; Inborn genetic)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)