S7F (p.Ser7Phe) variant of CALCB (P10092)
S7F (p.Ser7Phe) in CALCB (P10092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
S7F (p.Ser7Phe) variant details
- p.Ser7Phe
- ExAC rs763415957
- gnomAD rs763415957
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.10
- CADD 21.20
- PolyPhen-2 0.04
- SIFT 0.07
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available