R36C (p.Arg36Cys) variant of CALR (Calreticulin)
R36C (p.Arg36Cys) in CALR (Calreticulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
R36C (p.Arg36Cys) variant details
- p.Arg36Cys
- gnomAD 19-12939148-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- REVEL 0.49
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available