K97M (p.Lys97Met) variant of GYS2 (P54840)
K97M (p.Lys97Met) in GYS2 (P54840) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
K97M (p.Lys97Met) variant details
- p.Lys97Met
- TOPMed rs1363490595
- gnomAD rs1363490595
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.17
- CADD 22.70
- PolyPhen-2 0.28
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available