H17Y (p.His17Tyr) variant of ADA (Adenosine deaminase)
H17Y (p.His17Tyr) in ADA (Adenosine deaminase) 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 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
H17Y (p.His17Tyr) variant details
- p.His17Tyr
- rs1270198057
- ClinGen CA409122516
- ClinVar RCV003036019
- gnomAD rs1270198057
- Uncertain significance
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.877
- REVEL 0.95
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Adenosine Deaminase Deficiency. (PMID 20301656)