R29R (p.Arg29Arg) variant of CALCB (P10092)
R29R (p.Arg29Arg) in CALCB (P10092) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
R29R (p.Arg29Arg) variant details
- p.Arg29Arg
- rs746992399
- gnomAD 11-15074803-A-C
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.46
- CADD 23.20
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available