L66L (p.Leu66Leu) variant of CALR (Calreticulin)
L66L (p.Leu66Leu) in CALR (Calreticulin) is a protein-truncating 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.
L66L (p.Leu66Leu) variant details
- p.Leu66Leu
- gnomAD 19-12939430-T-C
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.318
- CADD 14.30
- Population evidence available
- Structural context available
- Literature evidence available