R29W (p.Arg29Trp) variant of CALCB (P10092)
R29W (p.Arg29Trp) in CALCB (P10092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
R29W (p.Arg29Trp) variant details
- p.Arg29Trp
- ExAC rs746992399
- gnomAD rs746992399
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- REVEL 0.54
- CADD 34.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available