A69G (p.Ala69Gly) variant of RAG1 (P15918)
A69G (p.Ala69Gly) in RAG1 (P15918) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Combined immunodeficiency due to partial RAG1 deficiency; Severe combined immuno. 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.
A69G (p.Ala69Gly) variant details
- p.Ala69Gly
- rs887750833
- ClinGen CA220599913
- ClinVar RCV002227588
- ClinVar RCV003107970
- Uncertain significance
- Combined immunodeficiency due to partial RAG1 deficiency; Severe combined immuno
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.12
- MetaLR 0.19
- MetaSVM -0.89
- CADD 3.43
- PolyPhen-2 0.00
- SIFT 0.43
- ClinVar: Uncertain significance (Combined immunodeficiency due to partial RAG1 deficiency; Severe)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available