K48Q (p.Lys48Gln) variant of CALR (Calreticulin)
K48Q (p.Lys48Gln) in CALR (Calreticulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
K48Q (p.Lys48Gln) variant details
- p.Lys48Gln
- gnomAD 19-12939184-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.12
- CADD 23.00
- PolyPhen-2 0.01
- SIFT 0.16
- Population evidence available
- Structural context available
- Literature evidence available