V16M (p.Val16Met) variant of PYGM (P11217)
V16M (p.Val16Met) 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 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
V16M (p.Val16Met) variant details
- p.Val16Met
- rs555856016
- ClinGen CA223889435
- ClinVar RCV002613288
- 1000Genomes rs555856016
- Uncertain significance
- Glycogen storage disease, type V
- Missense
- Variant Prioritization Score for Impact Estimate 0.687
- REVEL 0.70
- ESM-1b 0.35
- AlphaMissense 0.66
- CADD 23.30
- ClinVar: Uncertain significance (Glycogen storage disease, type V)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:KHV population (allele frequency 0.005)
- Structural context available
- Cited in: Glycogen Storage Disease Type V. (PMID 20301518)