T71R (p.Thr71Arg) variant of PYGM (P11217)
T71R (p.Thr71Arg) 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 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
T71R (p.Thr71Arg) variant details
- p.Thr71Arg
- rs377713922
- ClinGen CA381112038
- ClinVar RCV003087847
- Uncertain significance
- Glycogen storage disease, type V
- Missense
- Variant Prioritization Score for Impact Estimate 0.874
- REVEL 0.92
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 26.50
- PolyPhen-2 0.52
- SIFT 0.00
- ClinVar: Uncertain significance (Glycogen storage disease, type V)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: Glycogen Storage Disease Type V. (PMID 20301518)