S4P (p.Ser4Pro) variant of CALR (Calreticulin)
S4P (p.Ser4Pro) in CALR (Calreticulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
S4P (p.Ser4Pro) variant details
- p.Ser4Pro
- gnomAD rs1397929746
- Missense
- Variant Prioritization Score for Impact Estimate 0.122
- REVEL 0.03
- CADD 17.60
- PolyPhen-2 0.00
- SIFT 0.22
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available