A17V (p.Ala17Val) variant of CALR (Calreticulin)
A17V (p.Ala17Val) in CALR (Calreticulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
A17V (p.Ala17Val) variant details
- p.Ala17Val
- rs147368353
- ClinGen CA9235614
- ClinVar RCV004302525
- 1000Genomes rs147368353
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.12
- CADD 14.00
- PolyPhen-2 0.02
- SIFT 0.29
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00035)
- Structural context available