Y22H (p.Tyr22His) variant of CALR (Calreticulin)
Y22H (p.Tyr22His) in CALR (Calreticulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
Y22H (p.Tyr22His) variant details
- p.Tyr22His
- gnomAD 19-12938743-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.13
- CADD 23.40
- PolyPhen-2 0.61
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available