Y144H (p.Tyr144His) variant of GYS2 (P54840)
Y144H (p.Tyr144His) in GYS2 (P54840) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
Y144H (p.Tyr144His) variant details
- p.Tyr144His
- ExAC rs755209494
- gnomAD rs755209494
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 18.40
- PolyPhen-2 0.00
- SIFT 0.54
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available