V60M (p.Val60Met) variant of PYGM (P11217)
V60M (p.Val60Met) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
V60M (p.Val60Met) variant details
- p.Val60Met
- rs765962705
- ClinGen CA6080352
- NCI-TCGA Cosmic COSV5122
- cosmic curated COSV51225
- Uncertain significance
- Glycogen storage disease, type V; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- REVEL 0.71
- ESM-1b 1.00
- AlphaMissense 0.70
- CADD 25.10
- PolyPhen-2 0.86
- SIFT 0.01
- ClinVar: Uncertain significance (Glycogen storage disease, type V; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Glycogen Storage Disease Type V. (PMID 20301518)