D8N (p.Asp8Asn) variant of ADA (Adenosine deaminase)
D8N (p.Asp8Asn) in ADA (Adenosine deaminase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign 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 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
D8N (p.Asp8Asn) variant details
- p.Asp8Asn
- rs73598374
- ClinGen CA115289
- cosmic curated COSV54859
- ClinVar RCV000002050
- Benign
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.32
- CADD 15.90
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Benign (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:KALASH population (allele frequency 0.29)
- Structural context available
- Cited in: Autism: evidence of association with adenosine deaminase genetic polymorphism. (PMID 11354825)
- Cited in: A functional genetic variation of adenosine deaminase affects the duration and intensity of deep sleep in humans. (PMID 16221767)