L51I (p.Leu51Ile) variant of CALR (Calreticulin)
L51I (p.Leu51Ile) in CALR (Calreticulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
L51I (p.Leu51Ile) variant details
- p.Leu51Ile
- gnomAD 19-12939193-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.12
- CADD 22.20
- PolyPhen-2 0.09
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available