K41Q (p.Lys41Gln) variant of CALR (Calreticulin)
K41Q (p.Lys41Gln) 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.
K41Q (p.Lys41Gln) variant details
- p.Lys41Gln
- gnomAD 19-12939163-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.11
- CADD 23.50
- PolyPhen-2 0.10
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available