V115M (p.Val115Met) variant of GYS2 (P54840)
V115M (p.Val115Met) in GYS2 (P54840) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
V115M (p.Val115Met) variant details
- p.Val115Met
- ExAC rs764149075
- gnomAD rs764149075
- Missense
- Variant Prioritization Score for Impact Estimate 0.783
- REVEL 0.72
- ESM-1b 1.00
- AlphaMissense 0.91
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available