Y75C (p.Tyr75Cys) variant of PYGM (P11217)
Y75C (p.Tyr75Cys) 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.
Y75C (p.Tyr75Cys) variant details
- p.Tyr75Cys
- rs1449944847
- ClinGen CA381111939
- ClinVar RCV001508674
- ClinVar RCV002567995
- Uncertain significance
- Glycogen storage disease, type V; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.783
- REVEL 0.86
- ESM-1b 1.00
- AlphaMissense 0.40
- CADD 29.40
- PolyPhen-2 0.50
- SIFT 0.01
- ClinVar: Uncertain significance (Glycogen storage disease, type V; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Glycogen Storage Disease Type V. (PMID 20301518)