D63G (p.Asp63Gly) variant of CALR (Calreticulin)
D63G (p.Asp63Gly) in CALR (Calreticulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
D63G (p.Asp63Gly) variant details
- p.Asp63Gly
- gnomAD 19-12939230-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.752
- REVEL 0.79
- CADD 33.00
- PolyPhen-2 0.71
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available