A94S (p.Ala94Ser) variant of GYS2 (P54840)
A94S (p.Ala94Ser) in GYS2 (P54840) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
A94S (p.Ala94Ser) variant details
- p.Ala94Ser
- 1000Genomes rs34225615
- ESP rs34225615
- ExAC rs34225615
- TOPMed rs34225615
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.152
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 0.05
- PolyPhen-2 0.02
- SIFT 1.00
- EBI: Benign
- UniProt: Benign
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available