Y76F (p.Tyr76Phe) variant of PYGM (P11217)
Y76F (p.Tyr76Phe) in PYGM (P11217) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
Y76F (p.Tyr76Phe) variant details
- p.Tyr76Phe
- TOPMed rs1466112694
- gnomAD rs1466112694
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- REVEL 0.57
- ESM-1b 1.00
- AlphaMissense 0.46
- CADD 23.30
- PolyPhen-2 0.02
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available