F54Y (p.Phe54Tyr) variant of PYGM (P11217)
F54Y (p.Phe54Tyr) in PYGM (P11217) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided; Glycogen storage disease, type V. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
F54Y (p.Phe54Tyr) variant details
- p.Phe54Tyr
- rs375646075
- ClinGen CA6080356
- ClinVar RCV003129439
- ClinVar RCV003135288
- Uncertain significance
- Inborn genetic diseases; not provided; Glycogen storage disease, type V
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- REVEL 0.59
- ESM-1b 0.00
- AlphaMissense 0.16
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.44
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided; Glycogen storage disease,)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Cited in: Glycogen Storage Disease Type V. (PMID 20301518)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)