T68A (p.Thr68Ala) variant of CALR (Calreticulin)
T68A (p.Thr68Ala) in CALR (Calreticulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
T68A (p.Thr68Ala) variant details
- p.Thr68Ala
- gnomAD 19-12939436-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- REVEL 0.63
- CADD 31.00
- PolyPhen-2 0.77
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available