V21A (p.Val21Ala) variant of CALR (Calreticulin)
V21A (p.Val21Ala) in CALR (Calreticulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
V21A (p.Val21Ala) variant details
- p.Val21Ala
- gnomAD 19-12938741-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.22
- CADD 23.60
- PolyPhen-2 0.07
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available