M1T (p.Met1Thr) variant of PYGM (P11217)
M1T (p.Met1Thr) in PYGM (P11217) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic 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 published literature and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs2058423391
- ClinGen CA381113497
- ClinVar RCV001244574
- Likely pathogenic
- Glycogen storage disease, type V
- Missense
- Variant Prioritization Score for Impact Estimate 0.86
- ESM-1b 1.00
- AlphaMissense 0.47
- MetaLR 0.88
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Likely pathogenic (Glycogen storage disease, type V)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Glycogen Storage Disease Type V. (PMID 20301518)