L8V (p.Leu8Val) variant of CALR (Calreticulin)
L8V (p.Leu8Val) in CALR (Calreticulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
L8V (p.Leu8Val) variant details
- p.Leu8Val
- gnomAD rs941288230
- Missense
- Variant Prioritization Score for Impact Estimate 0.136
- REVEL 0.04
- CADD 15.40
- PolyPhen-2 0.00
- SIFT 0.31
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available