V116A (p.Val116Ala) variant of GYS2 (P54840)
V116A (p.Val116Ala) in GYS2 (P54840) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes structural context.
V116A (p.Val116Ala) variant details
- p.Val116Ala
- ExAC rs752934036
- gnomAD rs752934036
- Missense
- Variant Prioritization Score for Impact Estimate 0.884
- ESM-1b 1.00
- AlphaMissense 0.75
- Structural context available