R67H (p.Arg67His) variant of PYGM (P11217)
R67H (p.Arg67His) in PYGM (P11217) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. 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.
R67H (p.Arg67His) variant details
- p.Arg67His
- rs371357163
- cosmic curated COSV51217
- ESP rs371357163
- TOPMed rs371357163
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- REVEL 0.78
- ESM-1b 1.00
- AlphaMissense 0.56
- CADD 27.90
- PolyPhen-2 0.94
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)
- Structural context available