V116G (p.Val116Gly) variant of GYS2 (P54840)
V116G (p.Val116Gly) in GYS2 (P54840) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
V116G (p.Val116Gly) variant details
- p.Val116Gly
- ExAC rs752934036
- gnomAD rs752934036
- Missense
- Variant Prioritization Score for Impact Estimate 0.69
- REVEL 0.73
- ESM-1b 1.00
- AlphaMissense 0.91
- CADD 27.00
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available