A17T (p.Ala17Thr) variant of CALR (Calreticulin)
A17T (p.Ala17Thr) in CALR (Calreticulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
A17T (p.Ala17Thr) variant details
- p.Ala17Thr
- ExAC rs752512916
- gnomAD rs752512916
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.20
- CADD 20.90
- PolyPhen-2 0.34
- SIFT 0.09
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available