T50I (p.Thr50Ile) variant of GYS2 (P54840)
T50I (p.Thr50Ile) in GYS2 (P54840) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
T50I (p.Thr50Ile) variant details
- p.Thr50Ile
- ExAC rs751232960
- gnomAD rs751232960
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- REVEL 0.48
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 25.10
- PolyPhen-2 0.82
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available