P19L (p.Pro19Leu) variant of CALR (Calreticulin)
P19L (p.Pro19Leu) in CALR (Calreticulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
P19L (p.Pro19Leu) variant details
- p.Pro19Leu
- gnomAD rs1405396151
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.18
- CADD 22.70
- PolyPhen-2 0.04
- SIFT 0.05
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available