G30R (p.Gly30Arg) variant of CALR (Calreticulin)
G30R (p.Gly30Arg) in CALR (Calreticulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
G30R (p.Gly30Arg) variant details
- p.Gly30Arg
- rs1199946705
- TOPMed rs1199946705
- gnomAD rs1199946705
- ClinGen CA404301457
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- REVEL 0.41
- CADD 33.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available