S291L (p.Ser291Leu) variant of ADA (Adenosine deaminase)
S291L (p.Ser291Leu) in ADA (Adenosine deaminase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely 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 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
S291L (p.Ser291Leu) variant details
- p.Ser291Leu
- rs121908721
- ClinGen CA252013
- cosmic curated COSV10525
- ClinVar RCV000002048
- Likely pathogenic
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.9
- REVEL 0.96
- CADD 29.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- EBI: Pathogenic (in ADASCID)
- UniProt: Pathogenic (in ADASCID)
- Population evidence available
- Structural context available
- Cited in: Identification of two new missense mutations (R156C and S291L) in two ADA- SCID patients unusual for response to… (PMID 1284479)
- Cited in: Immunological and biochemical profiles in response to transfusion therapy in an adenosine deaminase-deficient patient… (PMID 498598)