G135R (p.Gly135Arg) variant of PYGM (P11217)
G135R (p.Gly135Arg) in PYGM (P11217) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Glycogen storage disease, type V. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
G135R (p.Gly135Arg) variant details
- p.Gly135Arg
- rs780246932
- ClinGen CA6080270
- NCI-TCGA Cosmic COSV9937
- ClinVar RCV000761339
- Conflicting interpretations
- Glycogen storage disease, type V
- Missense
- Variant Prioritization Score for Impact Estimate 0.92
- REVEL 0.99
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Glycogen storage disease, type V)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- Cited in: Glycogen Storage Disease Type V. (PMID 20301518)