Q17H (p.Gln17His) variant of GYS2 (P54840)
Q17H (p.Gln17His) in GYS2 (P54840) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
Q17H (p.Gln17His) variant details
- p.Gln17His
- ExAC rs749251980
- TOPMed rs749251980
- gnomAD rs749251980
- Missense
- Variant Prioritization Score for Impact Estimate 0.122
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 10.90
- PolyPhen-2 0.11
- SIFT 0.08
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available