P6L (p.Pro6Leu) variant of CALR (Calreticulin)
P6L (p.Pro6Leu) 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 0.22 / 1. The record also includes population frequency data and structural context.
P6L (p.Pro6Leu) variant details
- p.Pro6Leu
- ExAC rs780662640
- TOPMed rs780662640
- gnomAD rs780662640
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.07
- CADD 20.50
- PolyPhen-2 0.00
- SIFT 0.69
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00025)
- Structural context available