P19H (p.Pro19His) variant of CALR (Calreticulin)
P19H (p.Pro19His) in CALR (Calreticulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
P19H (p.Pro19His) variant details
- p.Pro19His
- gnomAD 19-12938735-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.19
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available