Y57H (p.Tyr57His) variant of CALR (Calreticulin)
Y57H (p.Tyr57His) in CALR (Calreticulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
Y57H (p.Tyr57His) variant details
- p.Tyr57His
- gnomAD 19-12939211-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.37
- CADD 24.60
- PolyPhen-2 0.27
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available