R4K (p.Arg4Lys) variant of CALCB (P10092)
R4K (p.Arg4Lys) in CALCB (P10092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
R4K (p.Arg4Lys) variant details
- p.Arg4Lys
- gnomAD 11-15074711-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- CADD 17.60
- Population evidence available
- Structural context available
- Literature evidence available