M491R (p.Met491Arg) variant of GYS2 (P54840)
M491R (p.Met491Arg) in GYS2 (P54840) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of GYS2-related disorders; Glycogen storage disorder due to hepatic glycogen syntha. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
M491R (p.Met491Arg) variant details
- p.Met491Arg
- rs121918422
- ClinGen CA126172
- ClinVar RCV000017431
- UniProt VAR 007865
- Likely pathogenic
- GYS2-related disorders; Glycogen storage disorder due to hepatic glycogen syntha
- Missense
- Variant Prioritization Score for Impact Estimate 0.736
- REVEL 0.74
- ESM-1b 1.00
- AlphaMissense 0.84
- CADD 27.30
- PolyPhen-2 0.81
- SIFT 0.00
- ClinVar: Likely pathogenic (GYS2-related disorders; Glycogen storage disorder due to hepatic)
- EBI: Pathogenic (in GSD0)
- UniProt: Pathogenic (in GSD0)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0. (PMID 9691087)