V102M (p.Val102Met) variant of GYS2 (P54840)
V102M (p.Val102Met) in GYS2 (P54840) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
V102M (p.Val102Met) variant details
- p.Val102Met
- Ensembl rs1944443326
- Missense
- Variant Prioritization Score for Impact Estimate 0.73
- REVEL 0.70
- ESM-1b 0.87
- AlphaMissense 0.56
- CADD 32.00
- PolyPhen-2 0.95
- SIFT 0.04
- Population evidence available
- Structural context available