A55T (p.Ala55Thr) variant of PYGM (P11217)
A55T (p.Ala55Thr) in PYGM (P11217) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
A55T (p.Ala55Thr) variant details
- p.Ala55Thr
- gnomAD rs1331894446
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- REVEL 0.89
- ESM-1b 1.00
- AlphaMissense 0.78
- CADD 24.10
- PolyPhen-2 0.23
- SIFT 0.04
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available