S157F (p.Ser157Phe) variant of GYS2 (P54840)
S157F (p.Ser157Phe) 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 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
S157F (p.Ser157Phe) variant details
- p.Ser157Phe
- rs774019135
- ClinGen CA6480192
- ClinVar RCV001294991
- ClinVar RCV005348408
- Uncertain significance
- Inborn genetic diseases; Glycogen storage disorder due to hepatic glycogen synth
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.44
- CADD 22.30
- PolyPhen-2 0.01
- SIFT 0.58
- ClinVar: Uncertain significance (Inborn genetic diseases; Glycogen storage disorder due to hepati)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- 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)