H74Q (p.His74Gln) variant of PYGM (P11217)
H74Q (p.His74Gln) in PYGM (P11217) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Glycogen storage disease, type V. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes published literature and structural context.
H74Q (p.His74Gln) variant details
- p.His74Gln
- rs2496674881
- ClinGen CA381111955
- ClinVar RCV003135175
- ClinVar RCV005475363
- Uncertain significance
- Inborn genetic diseases; Glycogen storage disease, type V
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- ESM-1b 0.70
- AlphaMissense 0.25
- ClinVar: Uncertain significance (Inborn genetic diseases; 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)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)