K55R (p.Lys55Arg) variant of CALR (Calreticulin)
K55R (p.Lys55Arg) in CALR (Calreticulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
K55R (p.Lys55Arg) variant details
- p.Lys55Arg
- gnomAD 19-12939206-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.29
- CADD 25.00
- PolyPhen-2 0.21
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available