P38R (p.Pro38Arg) variant of CALCB (P10092)
P38R (p.Pro38Arg) 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.
P38R (p.Pro38Arg) variant details
- p.Pro38Arg
- ExAC rs774903834
- TOPMed rs774903834
- gnomAD rs774903834
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0812
- REVEL 0.07
- CADD 2.56
- PolyPhen-2 0.00
- SIFT 0.81
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available