R36H (p.Arg36His) variant of CALR (Calreticulin)
R36H (p.Arg36His) in CALR (Calreticulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
R36H (p.Arg36His) variant details
- p.Arg36His
- gnomAD 19-12939149-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- REVEL 0.52
- CADD 28.50
- PolyPhen-2 0.26
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available