L14V (p.Leu14Val) variant of CALR (Calreticulin)
L14V (p.Leu14Val) in CALR (Calreticulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
L14V (p.Leu14Val) variant details
- p.Leu14Val
- gnomAD 19-12938719-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.114
- REVEL 0.03
- CADD 10.60
- PolyPhen-2 0.11
- SIFT 0.48
- Population evidence available
- Structural context available
- Literature evidence available