G135W (p.Gly135Trp) variant of PYGM (P11217)
G135W (p.Gly135Trp) in PYGM (P11217) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data and structural context.
G135W (p.Gly135Trp) variant details
- p.Gly135Trp
- ExAC rs780246932
- TOPMed rs780246932
- gnomAD rs780246932
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.919
- REVEL 0.99
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available