Q8K (p.Gln8Lys) variant of PYGM (P11217)
Q8K (p.Gln8Lys) 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 0.61 / 1. The record also includes published literature and structural context.
Q8K (p.Gln8Lys) variant details
- p.Gln8Lys
- rs886048464
- ClinGen CA10631142
- ClinVar RCV000312915
- Ensembl rs886048464
- Uncertain significance
- Glycogen storage disease, type V
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- ESM-1b 1.00
- AlphaMissense 0.10
- MetaLR 0.66
- MetaSVM 0.08
- PolyPhen-2 0.00
- SIFT 0.09
- ClinVar: Uncertain significance (Glycogen storage disease, type V)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Glycogen Storage Disease Type V. (PMID 20301518)