V65M (p.Val65Met) variant of PYGM (P11217)
V65M (p.Val65Met) 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 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
V65M (p.Val65Met) variant details
- p.Val65Met
- rs149658961
- ClinGen CA6080349
- cosmic curated COSV10632
- ClinVar RCV001277996
- Uncertain significance
- Glycogen storage disease, type V
- Missense
- Variant Prioritization Score for Impact Estimate 0.684
- REVEL 0.62
- ESM-1b 0.82
- AlphaMissense 0.60
- CADD 22.70
- PolyPhen-2 0.10
- SIFT 0.10
- ClinVar: Uncertain significance (Glycogen storage disease, type V)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- Structural context available
- Cited in: Glycogen Storage Disease Type V. (PMID 20301518)