I66T (p.Ile66Thr) variant of GYS2 (P54840)
I66T (p.Ile66Thr) in GYS2 (P54840) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
I66T (p.Ile66Thr) variant details
- p.Ile66Thr
- ExAC rs762069552
- gnomAD rs762069552
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- REVEL 0.46
- ESM-1b 1.00
- AlphaMissense 0.55
- CADD 25.80
- PolyPhen-2 0.60
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available