T95M (p.Thr95Met) variant of PYGM (P11217)
T95M (p.Thr95Met) 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 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
T95M (p.Thr95Met) variant details
- p.Thr95Met
- rs375233791
- ClinGen CA6080313
- ClinVar RCV002012790
- ESP rs375233791
- Uncertain significance
- Glycogen storage disease, type V
- Missense
- Variant Prioritization Score for Impact Estimate 0.727
- REVEL 0.69
- ESM-1b 1.00
- AlphaMissense 0.18
- CADD 24.10
- PolyPhen-2 0.97
- SIFT 0.14
- ClinVar: Uncertain significance (Glycogen storage disease, type V)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00019)
- Structural context available
- Cited in: Glycogen Storage Disease Type V. (PMID 20301518)