G13C (p.Gly13Cys) variant of CALR (Calreticulin)
G13C (p.Gly13Cys) in CALR (Calreticulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
G13C (p.Gly13Cys) variant details
- p.Gly13Cys
- Ensembl rs929780860
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.19
- CADD 23.30
- PolyPhen-2 0.79
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available