A94T (p.Ala94Thr) variant of GYS2 (P54840)
A94T (p.Ala94Thr) in GYS2 (P54840) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not specified; not provided; Glycogen storage disorder due to hepatic glycogen s. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
A94T (p.Ala94Thr) variant details
- p.Ala94Thr
- rs34225615
- ClinGen CA291139
- ClinVar RCV000125330
- ClinVar RCV000675357
- Benign
- not specified; not provided; Glycogen storage disorder due to hepatic glycogen s
- Missense
- Variant Prioritization Score for Impact Estimate 0.137
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 1.25
- PolyPhen-2 0.01
- SIFT 0.26
- ClinVar: Benign (not specified; not provided; Glycogen storage disorder due to he)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- Structural context available