A52A (p.Ala52Ala) variant of CALCB (P10092)
A52A (p.Ala52Ala) in CALCB (P10092) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
A52A (p.Ala52Ala) variant details
- p.Ala52Ala
- gnomAD 11-15075130-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.166
- CADD 12.00
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available