S53S (p.Ser53Ser) variant of CALR (Calreticulin)
S53S (p.Ser53Ser) in CALR (Calreticulin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
S53S (p.Ser53Ser) variant details
- p.Ser53Ser
- rs1277520418
- gnomAD 19-12939201-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.169
- CADD 12.50
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available