P6A (p.Pro6Ala) variant of CALR (Calreticulin)
P6A (p.Pro6Ala) in CALR (Calreticulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
P6A (p.Pro6Ala) variant details
- p.Pro6Ala
- ExAC rs756694331
- TOPMed rs756694331
- gnomAD rs756694331
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.04
- CADD 17.90
- PolyPhen-2 0.02
- SIFT 0.56
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available