V115A (p.Val115Ala) variant of GYS2 (P54840)
V115A (p.Val115Ala) in GYS2 (P54840) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes structural context.
V115A (p.Val115Ala) variant details
- p.Val115Ala
- TOPMed rs1944442668
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- REVEL 0.73
- ESM-1b 0.00
- AlphaMissense 0.65
- MetaLR 0.47
- MetaSVM -0.03
- SIFT 0.00
- Structural context available