Y85H (p.Tyr85His) variant of PYGM (P11217)
Y85H (p.Tyr85His) 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; Glycogen storage disease, type V. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
Y85H (p.Tyr85His) variant details
- p.Tyr85His
- rs373310140
- ClinGen CA6080318
- ClinVar RCV003135192
- ESP rs373310140
- Uncertain significance
- not provided; Glycogen storage disease, type V
- Missense
- Variant Prioritization Score for Impact Estimate 0.807
- REVEL 0.88
- ESM-1b 1.00
- AlphaMissense 0.98
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Glycogen storage disease, type V)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Glycogen Storage Disease Type V. (PMID 20301518)