R29S (p.Arg29Ser) variant of CALCB (P10092)
R29S (p.Arg29Ser) in CALCB (P10092) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
R29S (p.Arg29Ser) variant details
- p.Arg29Ser
- 1000Genomes rs541439036
- ExAC rs541439036
- TOPMed rs541439036
- gnomAD rs541439036
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.35
- CADD 24.10
- PolyPhen-2 1.00
- SIFT 0.02
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available