P38Q (p.Pro38Gln) variant of CALCB (P10092)
P38Q (p.Pro38Gln) in CALCB (P10092) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
P38Q (p.Pro38Gln) variant details
- p.Pro38Gln
- ExAC rs774903834
- TOPMed rs774903834
- gnomAD rs774903834
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0792
- REVEL 0.06
- CADD 4.84
- PolyPhen-2 0.01
- SIFT 0.47
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available