V84I (p.Val84Ile) variant of GYS2 (P54840)
V84I (p.Val84Ile) in GYS2 (P54840) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
V84I (p.Val84Ile) variant details
- p.Val84Ile
- TOPMed rs1359210515
- gnomAD rs1359210515
- Missense
- Variant Prioritization Score for Impact Estimate 0.0853
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 0.08
- PolyPhen-2 0.00
- SIFT 0.23
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available