A15T (p.Ala15Thr) variant of CALR (Calreticulin)
A15T (p.Ala15Thr) in CALR (Calreticulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
A15T (p.Ala15Thr) variant details
- p.Ala15Thr
- gnomAD 19-12938722-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.08
- CADD 20.70
- PolyPhen-2 0.04
- SIFT 0.22
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available