R61C (p.Arg61Cys) variant of PYGM (P11217)
R61C (p.Arg61Cys) in PYGM (P11217) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Glycogen storage disease, type V. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
R61C (p.Arg61Cys) variant details
- p.Arg61Cys
- rs1413461008
- ClinGen CA381112285
- cosmic curated COSV51222
- ClinVar RCV001996818
- Uncertain significance
- not specified; Glycogen storage disease, type V
- Missense
- Variant Prioritization Score for Impact Estimate 0.876
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.58
- CADD 31.00
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (not specified; Glycogen storage disease, type V)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available
- Cited in: Glycogen Storage Disease Type V. (PMID 20301518)