E128K (p.Glu128Lys) variant of PYGM (P11217)
E128K (p.Glu128Lys) in PYGM (P11217) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
E128K (p.Glu128Lys) variant details
- p.Glu128Lys
- TOPMed rs1306098829
- gnomAD rs1306098829
- Missense
- Variant Prioritization Score for Impact Estimate 0.731
- REVEL 0.67
- ESM-1b 1.00
- AlphaMissense 0.46
- CADD 23.70
- PolyPhen-2 0.85
- SIFT 0.20
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available