D59G (p.Asp59Gly) variant of CALR (Calreticulin)
D59G (p.Asp59Gly) in CALR (Calreticulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
D59G (p.Asp59Gly) variant details
- p.Asp59Gly
- gnomAD 19-12939218-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.42
- CADD 27.40
- PolyPhen-2 0.06
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available