Y57C (p.Tyr57Cys) variant of CALR (Calreticulin)
Y57C (p.Tyr57Cys) in CALR (Calreticulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
Y57C (p.Tyr57Cys) variant details
- p.Tyr57Cys
- rs138503495
- ClinGen CA9235662
- ClinVar RCV000943310
- ESP rs138503495
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.47
- CADD 32.00
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the Ashkenazi Jewish population (allele frequency 0.014)
- Structural context available