Y144* (p.Tyr144Ter) variant of GYS2 (P54840)
Y144* (p.Tyr144Ter) in GYS2 (P54840) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
Y144* (p.Tyr144Ter) variant details
- p.Tyr144Ter
- ExAC rs753566404
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.321
- CADD 34.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available