G58D (p.Gly58Asp) variant of CALR (Calreticulin)
G58D (p.Gly58Asp) in CALR (Calreticulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
G58D (p.Gly58Asp) variant details
- p.Gly58Asp
- gnomAD 19-12939215-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.22
- CADD 24.80
- PolyPhen-2 0.15
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available