H72R (p.His72Arg) variant of GYS2 (P54840)
H72R (p.His72Arg) in GYS2 (P54840) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Glycogen storage disorder due to hepatic glycogen synthase deficiency; Inborn ge. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
H72R (p.His72Arg) variant details
- p.His72Arg
- rs574787003
- ClinGen CA6480252
- ClinVar RCV001115118
- ClinVar RCV004978025
- Uncertain significance
- Glycogen storage disorder due to hepatic glycogen synthase deficiency; Inborn ge
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 21.40
- PolyPhen-2 0.16
- SIFT 0.40
- ClinVar: Uncertain significance (Glycogen storage disorder due to hepatic glycogen synthase defic)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ITU population (allele frequency 0.0049)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)