Q72R (p.Gln72Arg) variant of RAG1 (P15918)
Q72R (p.Gln72Arg) in RAG1 (P15918) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
Q72R (p.Gln72Arg) variant details
- p.Gln72Arg
- rs781240450
- ClinGen CA5949926
- ClinVar RCV001916181
- ExAC rs781240450
- Uncertain significance
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.10
- MetaLR 0.23
- MetaSVM -0.82
- CADD 11.80
- PolyPhen-2 0.02
- SIFT 0.47
- ClinVar: Uncertain significance (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 8.9e-05)
- Structural context available