L7V (p.Leu7Val) variant of CALR (Calreticulin)
L7V (p.Leu7Val) in CALR (Calreticulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
L7V (p.Leu7Val) variant details
- p.Leu7Val
- gnomAD 19-12938698-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.159
- REVEL 0.07
- CADD 17.00
- PolyPhen-2 0.00
- SIFT 0.39
- Population evidence available
- Structural context available
- Literature evidence available