Q49H (p.Gln49His) variant of GYS2 (P54840)
Q49H (p.Gln49His) in GYS2 (P54840) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
Q49H (p.Gln49His) variant details
- p.Gln49His
- TOPMed rs1229680625
- gnomAD rs1229680625
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.35
- ESM-1b 1.00
- AlphaMissense 0.83
- CADD 24.50
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available