L12F (p.Leu12Phe) variant of CALR (Calreticulin)
L12F (p.Leu12Phe) in CALR (Calreticulin) 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 0.25 / 1. The record also includes population frequency data and structural context.
L12F (p.Leu12Phe) variant details
- p.Leu12Phe
- rs763131258
- NCI-TCGA Cosmic COSV5713
- ExAC rs763131258
- gnomAD rs763131258
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.04
- CADD 11.20
- PolyPhen-2 0.23
- SIFT 0.27
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available