A149D (p.Ala149Asp) variant of GYS2 (P54840)
A149D (p.Ala149Asp) in GYS2 (P54840) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
A149D (p.Ala149Asp) variant details
- p.Ala149Asp
- 1000Genomes rs573849661
- gnomAD rs573849661
- Missense
- Variant Prioritization Score for Impact Estimate 0.66
- REVEL 0.56
- ESM-1b 1.00
- AlphaMissense 0.97
- CADD 27.20
- PolyPhen-2 0.99
- SIFT 0.04
- Most common in the 1KG:PJL population (allele frequency 0.0052)
- Structural context available