Q101* (p.Gln101Ter) variant of GYS2 (P54840)
Q101* (p.Gln101Ter) in GYS2 (P54840) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
Q101* (p.Gln101Ter) variant details
- p.Gln101Ter
- Ensembl rs1944494504
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.646
- CADD 46.00
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available