V64I (p.Val64Ile) variant of CD79A (P11912)
V64I (p.Val64Ile) in CD79A (P11912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Agammaglobulinemia 3, autosomal recessive. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data and structural context.
V64I (p.Val64Ile) variant details
- p.Val64Ile
- rs374041941
- ClinGen CA9465536
- cosmic curated COSV55738
- ClinVar RCV003077222
- Uncertain significance
- Agammaglobulinemia 3, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.0522
- REVEL 0.05
- CADD 0.51
- PolyPhen-2 0.07
- SIFT 0.27
- ClinVar: Uncertain significance (Agammaglobulinemia 3, autosomal recessive)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available