L64F (p.Leu64Phe) variant of PYGM (P11217)
L64F (p.Leu64Phe) in PYGM (P11217) is a missense change. Clinical records from ClinVar, EBI, 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 0.82 / 1. The record also includes population frequency data and structural context.
L64F (p.Leu64Phe) variant details
- p.Leu64Phe
- rs2058421040
- ClinGen CA381112214
- ClinVar RCV004546315
- gnomAD rs2058421040
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.82
- REVEL 0.81
- ESM-1b 1.00
- AlphaMissense 0.94
- CADD 26.40
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available