Q24R (p.Gln24Arg) variant of CALCB (P10092)
Q24R (p.Gln24Arg) in CALCB (P10092) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
Q24R (p.Gln24Arg) variant details
- p.Gln24Arg
- rs369719079
- ClinGen CA5897045
- ClinVar RCV004287122
- 1000Genomes rs369719079
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.14
- CADD 26.00
- PolyPhen-2 0.60
- SIFT 0.03
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:KHV population (allele frequency 0.005)
- Structural context available