I72V (p.Ile72Val) variant of ADA (Adenosine deaminase)
I72V (p.Ile72Val) 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 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
I72V (p.Ile72Val) variant details
- p.Ile72Val
- rs148785262
- ClinGen CA9871739
- ClinVar RCV003841566
- ESP rs148785262
- Uncertain significance
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.38
- CADD 20.10
- PolyPhen-2 0.10
- SIFT 0.39
- 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 2.9e-05)
- Structural context available
- Cited in: Adenosine Deaminase Deficiency. (PMID 20301656)