T55A (p.Thr55Ala) variant of GYS2 (P54840)
T55A (p.Thr55Ala) 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.
T55A (p.Thr55Ala) variant details
- p.Thr55Ala
- gnomAD rs1378899165
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- REVEL 0.48
- ESM-1b 1.00
- AlphaMissense 0.28
- CADD 25.80
- PolyPhen-2 0.82
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available