A52S (p.Ala52Ser) variant of GYS2 (P54840)
A52S (p.Ala52Ser) in GYS2 (P54840) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
A52S (p.Ala52Ser) variant details
- p.Ala52Ser
- TOPMed rs886049162
- gnomAD rs886049162
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- REVEL 0.59
- ESM-1b 1.00
- AlphaMissense 0.22
- CADD 25.30
- PolyPhen-2 0.96
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available