V25M (p.Val25Met) variant of PYGM (P11217)
V25M (p.Val25Met) in PYGM (P11217) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
V25M (p.Val25Met) variant details
- p.Val25Met
- ESP rs146845353
- ExAC rs146845353
- TOPMed rs146845353
- gnomAD rs146845353
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- REVEL 0.67
- ESM-1b 1.00
- AlphaMissense 0.73
- CADD 25.00
- PolyPhen-2 0.50
- SIFT 0.01
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available