L36R (p.Leu36Arg) variant of PYGM (P11217)
L36R (p.Leu36Arg) 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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
L36R (p.Leu36Arg) variant details
- p.Leu36Arg
- rs1394188143
- ClinGen CA381112838
- ClinVar RCV001205755
- TOPMed rs1394188143
- Conflicting interpretations
- Glycogen storage disease, type V
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- REVEL 0.92
- ESM-1b 1.00
- AlphaMissense 0.98
- CADD 29.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Glycogen storage disease, type V)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Glycogen Storage Disease Type V. (PMID 20301518)