N150S (p.Asn150Ser) variant of GYS2 (P54840)
N150S (p.Asn150Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
N150S (p.Asn150Ser) variant details
- p.Asn150Ser
- ExAC rs773073036
- TOPMed rs773073036
- gnomAD rs773073036
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.29
- ESM-1b 0.60
- AlphaMissense 0.13
- CADD 23.00
- PolyPhen-2 0.01
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available