A137T (p.Ala137Thr) variant of GYS2 (P54840)
A137T (p.Ala137Thr) in GYS2 (P54840) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
A137T (p.Ala137Thr) variant details
- p.Ala137Thr
- TOPMed rs1179811379
- gnomAD rs1179811379
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 17.50
- PolyPhen-2 0.01
- SIFT 0.84
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available