G141S (p.Gly141Ser) variant of GYS2 (P54840)
G141S (p.Gly141Ser) in GYS2 (P54840) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not specified; not provided; Glycogen storage disorder due to hepatic glycogen s. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
G141S (p.Gly141Ser) variant details
- p.Gly141Ser
- rs149533049
- ClinGen CA291141
- ClinVar RCV000125331
- ClinVar RCV000329997
- Benign/Likely benign
- not specified; not provided; Glycogen storage disorder due to hepatic glycogen s
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- REVEL 0.43
- ESM-1b 1.00
- AlphaMissense 0.26
- CADD 23.70
- PolyPhen-2 0.98
- SIFT 0.38
- ClinVar: Benign/Likely benign (not specified; not provided; Glycogen storage disorder due to he)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:MANDENKA population (allele frequency 0.025)
- Structural context available