M100T (p.Met100Thr) variant of PYGM (P11217)
M100T (p.Met100Thr) in PYGM (P11217) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
M100T (p.Met100Thr) variant details
- p.Met100Thr
- ExAC rs528545908
- TOPMed rs528545908
- gnomAD rs528545908
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- REVEL 0.86
- ESM-1b 1.00
- AlphaMissense 0.83
- CADD 23.60
- PolyPhen-2 0.14
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.02)
- Structural context available