G132D (p.Gly132Asp) variant of GYS2 (P54840)
G132D (p.Gly132Asp) in GYS2 (P54840) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
G132D (p.Gly132Asp) variant details
- p.Gly132Asp
- rs541099681
- ClinGen CA323426
- ClinVar RCV000198897
- 1000Genomes rs541099681
- Likely benign
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- REVEL 0.43
- ESM-1b 1.00
- AlphaMissense 0.71
- CADD 23.80
- PolyPhen-2 0.63
- SIFT 0.05
- ClinVar: Likely benign (not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:IBS population (allele frequency 0.0048)
- Structural context available