K43K (p.Lys43Lys) variant of CALR (Calreticulin)
K43K (p.Lys43Lys) in CALR (Calreticulin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
K43K (p.Lys43Lys) variant details
- p.Lys43Lys
- rs765976100
- gnomAD 19-12939171-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.346
- CADD 14.60
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available