K48E (p.Lys48Glu) variant of CALR (Calreticulin)
K48E (p.Lys48Glu) in CALR (Calreticulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
K48E (p.Lys48Glu) variant details
- p.Lys48Glu
- gnomAD 19-12939184-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.19
- CADD 22.90
- PolyPhen-2 0.02
- SIFT 0.37
- Population evidence available
- Structural context available
- Literature evidence available