I83F (p.Ile83Phe) variant of PYGM (P11217)
I83F (p.Ile83Phe) in PYGM (P11217) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Glycogen storage disease, type V. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
I83F (p.Ile83Phe) variant details
- p.Ile83Phe
- rs761616685
- ClinGen CA6080320
- ClinVar RCV003130371
- ExAC rs761616685
- Conflicting interpretations
- Glycogen storage disease, type V
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- REVEL 0.84
- ESM-1b 1.00
- AlphaMissense 0.85
- CADD 24.80
- PolyPhen-2 0.55
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (Glycogen storage disease, type V)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Glycogen Storage Disease Type V. (PMID 20301518)