S53F (p.Ser53Phe) variant of CALR (Calreticulin)
S53F (p.Ser53Phe) in CALR (Calreticulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
S53F (p.Ser53Phe) variant details
- p.Ser53Phe
- TOPMed rs1971510139
- gnomAD rs1971510139
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- REVEL 0.32
- CADD 32.00
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available