L28S (p.Leu28Ser) variant of GYS2 (P54840)
L28S (p.Leu28Ser) in GYS2 (P54840) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
L28S (p.Leu28Ser) variant details
- p.Leu28Ser
- TOPMed rs1944785258
- gnomAD rs1944785258
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.65
- CADD 20.30
- PolyPhen-2 0.01
- SIFT 0.42
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available