T34A (p.Thr34Ala) variant of CALR (Calreticulin)
T34A (p.Thr34Ala) in CALR (Calreticulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
T34A (p.Thr34Ala) variant details
- p.Thr34Ala
- gnomAD 19-12939142-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.151
- REVEL 0.02
- CADD 21.90
- PolyPhen-2 0.00
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available