T71M (p.Thr71Met) variant of PYGM (P11217)
T71M (p.Thr71Met) 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 0.86 / 1. The record also includes population frequency data and structural context.
T71M (p.Thr71Met) variant details
- p.Thr71Met
- ESP rs377713922
- ExAC rs377713922
- TOPMed rs377713922
- gnomAD rs377713922
- Uncertain significance
- Glycogen storage disease, type V
- Missense
- Variant Prioritization Score for Impact Estimate 0.859
- REVEL 0.86
- ESM-1b 1.00
- AlphaMissense 0.95
- CADD 28.30
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (Glycogen storage disease, type V)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00041)
- Structural context available