L48F (p.Leu48Phe) variant of CALCB (P10092)
L48F (p.Leu48Phe) in CALCB (P10092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
L48F (p.Leu48Phe) variant details
- p.Leu48Phe
- ExAC rs777490359
- gnomAD rs777490359
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.18
- CADD 25.80
- PolyPhen-2 0.93
- SIFT 0.02
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00038)
- Structural context available