S53Y (p.Ser53Tyr) variant of CALR (Calreticulin)
S53Y (p.Ser53Tyr) in CALR (Calreticulin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
S53Y (p.Ser53Tyr) variant details
- p.Ser53Tyr
- TOPMed rs1971510139
- gnomAD rs1971510139
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.17
- CADD 25.20
- PolyPhen-2 0.26
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available