D31A (p.Asp31Ala) variant of CALR (Calreticulin)
D31A (p.Asp31Ala) in CALR (Calreticulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
D31A (p.Asp31Ala) variant details
- p.Asp31Ala
- gnomAD 19-12939134-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.26
- CADD 24.40
- PolyPhen-2 0.06
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available