A20T (p.Ala20Thr) variant of CALCB (P10092)
A20T (p.Ala20Thr) in CALCB (P10092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
A20T (p.Ala20Thr) variant details
- p.Ala20Thr
- TOPMed rs980235610
- gnomAD rs980235610
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.13
- CADD 23.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available