G58S (p.Gly58Ser) variant of CALR (Calreticulin)
G58S (p.Gly58Ser) in CALR (Calreticulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
G58S (p.Gly58Ser) variant details
- p.Gly58Ser
- gnomAD 19-12939214-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.24
- CADD 25.30
- PolyPhen-2 0.24
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available