Q17R (p.Gln17Arg) variant of GYS2 (P54840)
Q17R (p.Gln17Arg) in GYS2 (P54840) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.05 / 1. The record also includes population frequency data, published literature, and structural context.
Q17R (p.Gln17Arg) variant details
- p.Gln17Arg
- rs376935348
- ClinGen CA6480290
- ClinVar RCV000824324
- ClinVar RCV006367420
- Conflicting interpretations
- Glycogen storage disorder due to hepatic glycogen synthase deficiency; Inborn ge
- Missense
- Variant Prioritization Score for Impact Estimate 0.0547
- REVEL 0.02
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 0.01
- PolyPhen-2 0.02
- SIFT 0.40
- ClinVar: Conflicting classifications of pathogenicity (Glycogen storage disorder due to hepatic glycogen synthase defic)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 7.4e-05)
- 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)