L12R (p.Leu12Arg) variant of CALR (Calreticulin)
L12R (p.Leu12Arg) in CALR (Calreticulin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
L12R (p.Leu12Arg) variant details
- p.Leu12Arg
- NCI-TCGA TCGA novel
- Variant assessed as somatic; high impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.28
- CADD 23.20
- PolyPhen-2 0.47
- SIFT 0.06
- UniProt: Variant assessed as somatic; high impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available