P143S (p.Pro143Ser) variant of GYS2 (P54840)
P143S (p.Pro143Ser) 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 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
P143S (p.Pro143Ser) variant details
- p.Pro143Ser
- rs376712209
- ClinGen CA6480201
- ClinVar RCV001067910
- ClinVar RCV005348302
- Uncertain significance
- Glycogen storage disorder due to hepatic glycogen synthase deficiency; Inborn ge
- Missense
- Variant Prioritization Score for Impact Estimate 0.809
- REVEL 0.80
- ESM-1b 1.00
- AlphaMissense 0.72
- CADD 26.40
- PolyPhen-2 0.97
- SIFT 0.01
- ClinVar: Uncertain significance (Glycogen storage disorder due to hepatic glycogen synthase defic)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.7e-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)