I27V (p.Ile27Val) variant of ADA (Adenosine deaminase)
I27V (p.Ile27Val) in ADA (Adenosine deaminase) is a missense change. Clinical records from ClinVar 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 0.50 / 1. The record also includes population frequency data and structural context.
I27V (p.Ile27Val) variant details
- p.Ile27Val
- ESP rs376138229
- ExAC rs376138229
- gnomAD rs376138229
- Uncertain significance
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.43
- CADD 22.20
- PolyPhen-2 0.10
- SIFT 0.13
- ClinVar: Uncertain significance (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available