R70L (p.Arg70Leu) variant of PYGM (P11217)
R70L (p.Arg70Leu) 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 0.83 / 1. The record also includes population frequency data and structural context.
R70L (p.Arg70Leu) variant details
- p.Arg70Leu
- cosmic curated COSV10874
- ExAC rs759631990
- TOPMed rs759631990
- gnomAD rs759631990
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.832
- REVEL 0.83
- ESM-1b 1.00
- AlphaMissense 0.83
- CADD 26.60
- PolyPhen-2 0.70
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available