T34P (p.Thr34Pro) variant of CALR (Calreticulin)
T34P (p.Thr34Pro) in CALR (Calreticulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
T34P (p.Thr34Pro) variant details
- p.Thr34Pro
- gnomAD 19-12939142-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.12
- CADD 23.20
- PolyPhen-2 0.31
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available