T40A (p.Thr40Ala) variant of CALCB (P10092)
T40A (p.Thr40Ala) in CALCB (P10092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
T40A (p.Thr40Ala) variant details
- p.Thr40Ala
- TOPMed rs1850381817
- gnomAD rs1850381817
- Missense
- Variant Prioritization Score for Impact Estimate 0.0561
- REVEL 0.04
- CADD 3.34
- PolyPhen-2 0.01
- SIFT 0.28
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available