R36W (p.Arg36Trp) variant of CD79B (P40259)
R36W (p.Arg36Trp) 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; Agammaglobulinemia 6, autosomal recessive. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
R36W (p.Arg36Trp) variant details
- p.Arg36Trp
- rs201705534
- ClinGen CA8708647
- cosmic curated COSV10953
- ClinVar RCV001359933
- Uncertain significance
- not specified; Agammaglobulinemia 6, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.23
- CADD 15.40
- PolyPhen-2 0.11
- SIFT 0.05
- ClinVar: Uncertain significance (not specified; Agammaglobulinemia 6, autosomal recessive)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:PUR population (allele frequency 0.0051)
- Structural context available