E122G (p.Glu122Gly) variant of PYGM (P11217)
E122G (p.Glu122Gly) in PYGM (P11217) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
E122G (p.Glu122Gly) variant details
- p.Glu122Gly
- gnomAD rs1320036556
- Missense
- Variant Prioritization Score for Impact Estimate 0.809
- REVEL 0.90
- ESM-1b 1.00
- AlphaMissense 0.28
- CADD 32.00
- PolyPhen-2 0.90
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available