A39G (p.Ala39Gly) variant of CALCB (P10092)
A39G (p.Ala39Gly) in CALCB (P10092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
A39G (p.Ala39Gly) variant details
- p.Ala39Gly
- gnomAD 11-15075090-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.06
- CADD 10.10
- PolyPhen-2 0.01
- SIFT 0.09
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available