G10C (p.Gly10Cys) variant of CALR (Calreticulin)
G10C (p.Gly10Cys) in CALR (Calreticulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
G10C (p.Gly10Cys) variant details
- p.Gly10Cys
- gnomAD 19-12938707-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.12
- CADD 21.90
- PolyPhen-2 0.01
- SIFT 0.33
- Population evidence available
- Structural context available
- Literature evidence available