R34P (p.Arg34Pro) variant of CD79B (P40259)
R34P (p.Arg34Pro) 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 0.12 / 1. The record also includes population frequency data and structural context.
R34P (p.Arg34Pro) variant details
- p.Arg34Pro
- ESP rs371573435
- ExAC rs371573435
- TOPMed rs371573435
- gnomAD rs371573435
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.117
- REVEL 0.16
- CADD 0.05
- PolyPhen-2 0.00
- SIFT 0.29
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available