R70P (p.Arg70Pro) variant of PYGM (P11217)
R70P (p.Arg70Pro) in PYGM (P11217) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
R70P (p.Arg70Pro) variant details
- p.Arg70Pro
- ExAC rs759631990
- TOPMed rs759631990
- gnomAD rs759631990
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.88
- REVEL 0.90
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 28.10
- PolyPhen-2 0.97
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Structural context available