V50F (p.Val50Phe) variant of CALR (Calreticulin)
V50F (p.Val50Phe) in CALR (Calreticulin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
V50F (p.Val50Phe) variant details
- p.Val50Phe
- ExAC rs764612484
- TOPMed rs764612484
- gnomAD rs764612484
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.11
- CADD 23.00
- PolyPhen-2 0.06
- SIFT 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available