A39D (p.Ala39Asp) variant of CALCB (P10092)
A39D (p.Ala39Asp) in CALCB (P10092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
A39D (p.Ala39Asp) variant details
- p.Ala39Asp
- gnomAD 11-15075090-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.07
- CADD 15.40
- PolyPhen-2 0.40
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available