V22M (p.Val22Met) variant of PYGM (P11217)
V22M (p.Val22Met) 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 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
V22M (p.Val22Met) variant details
- p.Val22Met
- rs140731551
- ClinGen CA10606633
- cosmic curated COSV51215
- ClinVar RCV000396772
- Uncertain significance
- not provided; Glycogen storage disease, type V
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- REVEL 0.35
- ESM-1b 1.00
- AlphaMissense 0.17
- CADD 23.40
- PolyPhen-2 0.36
- SIFT 0.04
- ClinVar: Uncertain significance (not provided; Glycogen storage disease, type V)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00096)
- Structural context available
- Cited in: Glycogen Storage Disease Type V. (PMID 20301518)