I38F (p.Ile38Phe) variant of CALR (Calreticulin)
I38F (p.Ile38Phe) in CALR (Calreticulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
I38F (p.Ile38Phe) variant details
- p.Ile38Phe
- gnomAD 19-12939154-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.23
- CADD 23.00
- PolyPhen-2 0.67
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available