A17G (p.Ala17Gly) variant of CALR (Calreticulin)
A17G (p.Ala17Gly) 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 0.33 / 1. The record also includes population frequency data and structural context.
A17G (p.Ala17Gly) variant details
- p.Ala17Gly
- rs147368353
- ClinGen CA9235613
- ClinVar RCV004317774
- 1000Genomes rs147368353
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.22
- CADD 15.50
- PolyPhen-2 0.40
- SIFT 0.10
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:JPT population (allele frequency 0.0049)
- Structural context available