I154M (p.Ile154Met) variant of GYS2 (P54840)
I154M (p.Ile154Met) in GYS2 (P54840) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
I154M (p.Ile154Met) variant details
- p.Ile154Met
- 1000Genomes rs200401082
- ExAC rs200401082
- TOPMed rs200401082
- gnomAD rs200401082
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.35
- ESM-1b 1.00
- AlphaMissense 0.30
- CADD 22.30
- PolyPhen-2 0.85
- SIFT 0.08
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- Structural context available