T59N (p.Thr59Asn) variant of PYGM (P11217)
T59N (p.Thr59Asn) in PYGM (P11217) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
T59N (p.Thr59Asn) variant details
- p.Thr59Asn
- ExAC rs754417088
- gnomAD rs754417088
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- REVEL 0.71
- ESM-1b 1.00
- AlphaMissense 0.88
- CADD 25.80
- PolyPhen-2 0.72
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available