V50L (p.Val50Leu) variant of CALR (Calreticulin)
V50L (p.Val50Leu) 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 0.19 / 1. The record also includes population frequency data and structural context.
V50L (p.Val50Leu) variant details
- p.Val50Leu
- rs764612484
- ClinGen CA9235659
- ClinVar RCV004203084
- ExAC rs764612484
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- REVEL 0.07
- CADD 18.30
- PolyPhen-2 0.01
- SIFT 0.19
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available