R34Q (p.Arg34Gln) variant of CD79B (P40259)
R34Q (p.Arg34Gln) in CD79B (P40259) 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 0.09 / 1. The record also includes population frequency data and structural context.
R34Q (p.Arg34Gln) variant details
- p.Arg34Gln
- rs371573435
- ClinGen CA8708651
- ClinVar RCV004234838
- ESP rs371573435
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0856
- REVEL 0.10
- CADD 0.03
- PolyPhen-2 0.00
- SIFT 0.61
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available