H42L (p.His42Leu) variant of CALR (Calreticulin)
H42L (p.His42Leu) in CALR (Calreticulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
H42L (p.His42Leu) variant details
- p.His42Leu
- gnomAD rs1285438952
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- REVEL 0.42
- CADD 23.90
- PolyPhen-2 0.33
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available