I48T (p.Ile48Thr) variant of GYS2 (P54840)
I48T (p.Ile48Thr) in GYS2 (P54840) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
I48T (p.Ile48Thr) variant details
- p.Ile48Thr
- ExAC rs756901644
- TOPMed rs756901644
- gnomAD rs756901644
- Missense
- Variant Prioritization Score for Impact Estimate 0.757
- REVEL 0.79
- ESM-1b 1.00
- AlphaMissense 0.97
- CADD 25.40
- PolyPhen-2 0.67
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available