Y75H (p.Tyr75His) variant of PYGM (P11217)
Y75H (p.Tyr75His) in PYGM (P11217) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
Y75H (p.Tyr75His) variant details
- p.Tyr75His
- TOPMed rs1349100815
- gnomAD rs1349100815
- Missense
- Variant Prioritization Score for Impact Estimate 0.638
- REVEL 0.65
- ESM-1b 1.00
- AlphaMissense 0.69
- CADD 24.80
- PolyPhen-2 0.32
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available