Q115H (p.Gln115His) variant of PYGM (P11217)
Q115H (p.Gln115His) 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 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
Q115H (p.Gln115His) variant details
- p.Gln115His
- rs2135840732
- ClinGen CA381110884
- ClinVar RCV002009686
- Ensembl rs2135840732
- Uncertain significance
- Glycogen storage disease, type V
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- REVEL 0.81
- ESM-1b 1.00
- AlphaMissense 0.86
- CADD 34.00
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Glycogen storage disease, type V)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Glycogen Storage Disease Type V. (PMID 20301518)