A46T (p.Ala46Thr) variant of CALCB (P10092)
A46T (p.Ala46Thr) in CALCB (P10092) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
A46T (p.Ala46Thr) variant details
- p.Ala46Thr
- rs200666060
- ClinGen CA5897084
- ClinVar RCV004434491
- ESP rs200666060
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.12
- CADD 22.80
- PolyPhen-2 0.43
- SIFT 0.19
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:SARDINIAN population (allele frequency 0.019)
- Structural context available