S4S (p.Ser4Ser) variant of CALR (Calreticulin)
S4S (p.Ser4Ser) in CALR (Calreticulin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
S4S (p.Ser4Ser) variant details
- p.Ser4Ser
- gnomAD 19-12938691-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.15
- CADD 9.78
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available