D110G (p.Asp110Gly) variant of PYGM (P11217)
D110G (p.Asp110Gly) in PYGM (P11217) is a missense change. 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.
D110G (p.Asp110Gly) variant details
- p.Asp110Gly
- gnomAD rs1251356910
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- REVEL 0.83
- ESM-1b 1.00
- AlphaMissense 0.75
- CADD 24.50
- PolyPhen-2 0.88
- SIFT 0.10
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available