P19S (p.Pro19Ser) variant of CALR (Calreticulin)
P19S (p.Pro19Ser) in CALR (Calreticulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
P19S (p.Pro19Ser) variant details
- p.Pro19Ser
- gnomAD 19-12938734-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.12
- CADD 18.50
- PolyPhen-2 0.01
- SIFT 0.24
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available