E125K (p.Glu125Lys) variant of PYGM (P11217)
E125K (p.Glu125Lys) in PYGM (P11217) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
E125K (p.Glu125Lys) variant details
- p.Glu125Lys
- Ensembl rs1592415687
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.791
- REVEL 0.78
- ESM-1b 1.00
- AlphaMissense 0.59
- CADD 25.10
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the HGDP:NAXI population (allele frequency 0.071)
- Structural context available