R70C (p.Arg70Cys) variant of PYGM (P11217)
R70C (p.Arg70Cys) in PYGM (P11217) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; not specified; Glycogen storage disease, type V. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
R70C (p.Arg70Cys) variant details
- p.Arg70Cys
- rs765844107
- ClinGen CA6080344
- ClinVar RCV000489454
- ClinVar RCV001272370
- Uncertain significance
- not provided; not specified; Glycogen storage disease, type V
- Missense
- Variant Prioritization Score for Impact Estimate 0.888
- REVEL 0.92
- ESM-1b 1.00
- AlphaMissense 0.68
- CADD 32.00
- PolyPhen-2 0.98
- SIFT 0.01
- ClinVar: Uncertain significance (not provided; not specified; Glycogen storage disease, type V)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00055)
- Structural context available
- Cited in: Glycogen Storage Disease Type V. (PMID 20301518)