L12L (p.Leu12Leu) variant of CALR (Calreticulin)
L12L (p.Leu12Leu) in CALR (Calreticulin) is a synonymous 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.
L12L (p.Leu12Leu) variant details
- p.Leu12Leu
- gnomAD 19-12938715-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.109
- CADD 4.03
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available