S52S (p.Ser52Ser) variant of CALR (Calreticulin)
S52S (p.Ser52Ser) in CALR (Calreticulin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
S52S (p.Ser52Ser) variant details
- p.Ser52Ser
- rs1446622339
- gnomAD 19-12939198-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.409
- CADD 15.90
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available