M120T (p.Met120Thr) variant of PYGM (P11217)
M120T (p.Met120Thr) in PYGM (P11217) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Glycogen storage disease, type V. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
M120T (p.Met120Thr) variant details
- p.Met120Thr
- rs374898083
- ClinGen CA6080274
- ClinVar RCV002912827
- ClinVar RCV006546150
- Uncertain significance
- not provided; Glycogen storage disease, type V
- Missense
- Variant Prioritization Score for Impact Estimate 0.711
- REVEL 0.75
- ESM-1b 1.00
- AlphaMissense 0.51
- CADD 23.30
- PolyPhen-2 0.22
- SIFT 0.01
- ClinVar: Uncertain significance (not provided; Glycogen storage disease, type V)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available
- Cited in: Glycogen Storage Disease Type V. (PMID 20301518)