K5Q (p.Lys5Gln) variant of CALCB (P10092)
K5Q (p.Lys5Gln) in CALCB (P10092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
K5Q (p.Lys5Gln) variant details
- p.Lys5Gln
- gnomAD 11-14978339-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- CADD 9.60
- Most common in the Finnish in Finland (FIN) population (allele frequency 3e-05)
- Structural context available
- Literature evidence available