Q73H (p.Gln73His) variant of PYGM (P11217)
Q73H (p.Gln73His) in PYGM (P11217) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
Q73H (p.Gln73His) variant details
- p.Gln73His
- TOPMed rs1182739938
- gnomAD rs1182739938
- Missense
- Variant Prioritization Score for Impact Estimate 0.602
- REVEL 0.66
- ESM-1b 1.00
- AlphaMissense 0.97
- CADD 23.10
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available