R44C (p.Arg44Cys) variant of PYGM (P11217)
R44C (p.Arg44Cys) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
R44C (p.Arg44Cys) variant details
- p.Arg44Cys
- rs763488434
- ClinGen CA6080366
- cosmic curated COSV99377
- ClinVar RCV003603928
- Uncertain significance
- Glycogen storage disease, type V
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- REVEL 0.79
- ESM-1b 1.00
- AlphaMissense 0.86
- CADD 32.00
- PolyPhen-2 0.95
- SIFT 0.02
- ClinVar: Uncertain significance (Glycogen storage disease, type V)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Glycogen Storage Disease Type V. (PMID 20301518)