R44H (p.Arg44His) variant of PYGM (P11217)
R44H (p.Arg44His) 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 provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
R44H (p.Arg44His) variant details
- p.Arg44His
- rs567482511
- ClinGen CA6080365
- ClinVar RCV000280338
- ClinVar RCV002519132
- Uncertain significance
- Glycogen storage disease, type V; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.785
- REVEL 0.74
- ESM-1b 1.00
- AlphaMissense 0.75
- CADD 25.50
- PolyPhen-2 0.89
- SIFT 0.05
- ClinVar: Uncertain significance (Glycogen storage disease, type V; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available
- Cited in: Glycogen Storage Disease Type V. (PMID 20301518)