S30F (p.Ser30Phe) variant of CALCB (P10092)
S30F (p.Ser30Phe) in CALCB (P10092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
S30F (p.Ser30Phe) variant details
- p.Ser30Phe
- ExAC rs772389365
- gnomAD rs772389365
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.16
- CADD 23.50
- PolyPhen-2 0.90
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available