S52R (p.Ser52Arg) variant of CALR (Calreticulin)
S52R (p.Ser52Arg) in CALR (Calreticulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
S52R (p.Ser52Arg) variant details
- p.Ser52Arg
- gnomAD rs1971509989
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.29
- CADD 27.00
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available