D31V (p.Asp31Val) variant of CALR (Calreticulin)
D31V (p.Asp31Val) in CALR (Calreticulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
D31V (p.Asp31Val) variant details
- p.Asp31Val
- 1000Genomes rs146793150
- ESP rs146793150
- ExAC rs146793150
- TOPMed rs146793150
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.28
- CADD 32.00
- PolyPhen-2 0.72
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available