A456D (p.Ala456Asp) variant of RAG2 (P55895)
A456D (p.Ala456Asp) in RAG2 (P55895) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
A456D (p.Ala456Asp) variant details
- p.Ala456Asp
- rs1479440369
- ClinGen CA380140517
- ClinVar RCV001300504
- ClinVar RCV001835435
- Conflicting interpretations
- Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.863
- REVEL 0.91
- CADD 27.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Combined immunodeficiency with skin granulomas; Severe combined)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available