T59I (p.Thr59Ile) variant of PYGM (P11217)
T59I (p.Thr59Ile) in PYGM (P11217) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
T59I (p.Thr59Ile) variant details
- p.Thr59Ile
- ExAC rs754417088
- gnomAD rs754417088
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- REVEL 0.69
- ESM-1b 1.00
- AlphaMissense 0.81
- CADD 26.30
- PolyPhen-2 0.61
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available