R70H (p.Arg70His) variant of PYGM (P11217)
R70H (p.Arg70His) 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 0.80 / 1. The record also includes population frequency data and structural context.
R70H (p.Arg70His) variant details
- p.Arg70His
- ExAC rs759631990
- TOPMed rs759631990
- gnomAD rs759631990
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.801
- REVEL 0.78
- ESM-1b 1.00
- AlphaMissense 0.58
- CADD 27.40
- PolyPhen-2 0.95
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.00031)
- Structural context available