L51V (p.Leu51Val) variant of CALR (Calreticulin)
L51V (p.Leu51Val) 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 0.31 / 1. The record also includes population frequency data and structural context.
L51V (p.Leu51Val) variant details
- p.Leu51Val
- rs1315949624
- NCI-TCGA Cosmic COSV5711
- gnomAD rs1315949624
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.12
- CADD 21.90
- PolyPhen-2 0.04
- SIFT 0.06
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available