Y75F (p.Tyr75Phe) variant of PYGM (P11217)
Y75F (p.Tyr75Phe) in PYGM (P11217) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Glycogen storage disease, type V. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
Y75F (p.Tyr75Phe) variant details
- p.Tyr75Phe
- rs1449944847
- ClinGen CA381111945
- ClinVar RCV003130366
- Uncertain significance
- Glycogen storage disease, type V
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- REVEL 0.67
- ESM-1b 0.54
- AlphaMissense 0.24
- CADD 25.10
- PolyPhen-2 0.80
- SIFT 0.05
- ClinVar: Uncertain significance (Glycogen storage disease, type V)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9e-05)
- Structural context available
- Cited in: Glycogen Storage Disease Type V. (PMID 20301518)