L304R (p.Leu304Arg) variant of ADA (Adenosine deaminase)
L304R (p.Leu304Arg) in ADA (Adenosine deaminase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic 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 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
L304R (p.Leu304Arg) variant details
- p.Leu304Arg
- rs199422327
- ClinGen CA252002
- ClinVar RCV000002035
- ClinVar RCV004752678
- Pathogenic
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- REVEL 0.96
- CADD 28.30
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- EBI: Pathogenic (in ADASCID)
- UniProt: Pathogenic (in ADASCID)
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available
- Cited in: One adenosine deaminase allele in a patient with severe combined immunodeficiency contains a point mutation abolishing… (PMID 3007108)
- Cited in: Adenosine-deaminase deficiency in a child diagnosed prenatally. (PMID 46025)