P55L (p.Pro55Leu) variant of CD79A (P11912)
P55L (p.Pro55Leu) in CD79A (P11912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Agammaglobulinemia 3, autosomal recessive. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
P55L (p.Pro55Leu) variant details
- p.Pro55Leu
- rs764758292
- ClinGen CA9465527
- cosmic curated COSV55739
- ClinVar RCV001875606
- Conflicting interpretations
- not specified; Agammaglobulinemia 3, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.077
- REVEL 0.09
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.31
- ClinVar: Conflicting classifications of pathogenicity (not specified; Agammaglobulinemia 3, autosomal recessive)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 7.4e-05)
- Structural context available