L28M (p.Leu28Met) variant of PYGM (P11217)
L28M (p.Leu28Met) in PYGM (P11217) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
L28M (p.Leu28Met) variant details
- p.Leu28Met
- TOPMed rs1592417170
- gnomAD rs1592417170
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.41
- ESM-1b 1.00
- AlphaMissense 0.21
- CADD 22.00
- PolyPhen-2 0.06
- SIFT 0.06
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available