S21A (p.Ser21Ala) variant of ADA (Adenosine deaminase)
S21A (p.Ser21Ala) in ADA (Adenosine deaminase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Severe combined immunodeficiency, autosomal recessive, T cell-nega. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
S21A (p.Ser21Ala) variant details
- p.Ser21Ala
- rs139350872
- ClinGen CA9871785
- ClinVar RCV000690764
- ClinVar RCV001507463
- Uncertain significance
- not provided; Severe combined immunodeficiency, autosomal recessive, T cell-nega
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.30
- CADD 6.51
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not provided; Severe combined immunodeficiency, autosomal recess)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00019)
- Structural context available
- Cited in: Adenosine Deaminase Deficiency. (PMID 20301656)