L2V (p.Leu2Val) variant of CALR (Calreticulin)
L2V (p.Leu2Val) in CALR (Calreticulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
L2V (p.Leu2Val) variant details
- p.Leu2Val
- gnomAD 19-12938683-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.10
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.15
- Population evidence available
- Structural context available
- Literature evidence available