D86G (p.Asp86Gly) variant of GYS2 (P54840)
D86G (p.Asp86Gly) in GYS2 (P54840) 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 disorder due to hepatic glycogen synth. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
D86G (p.Asp86Gly) variant details
- p.Asp86Gly
- rs1944495395
- ClinGen CA384139006
- ClinVar RCV002004387
- ClinVar RCV006368108
- Uncertain significance
- Inborn genetic diseases; Glycogen storage disorder due to hepatic glycogen synth
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 20.50
- PolyPhen-2 0.00
- SIFT 0.15
- ClinVar: Uncertain significance (Inborn genetic diseases; Glycogen storage disorder due to hepati)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-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)