Q24E (p.Gln24Glu) variant of CALCB (P10092)
Q24E (p.Gln24Glu) 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.
Q24E (p.Gln24Glu) variant details
- p.Gln24Glu
- gnomAD 11-15074788-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.07
- CADD 23.20
- PolyPhen-2 0.02
- SIFT 0.01
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available