G94D (p.Gly94Asp) variant of ADA (Adenosine deaminase)
G94D (p.Gly94Asp) 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 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
G94D (p.Gly94Asp) variant details
- p.Gly94Asp
- rs2065384316
- ClinGen CA409121424
- ClinVar RCV002785229
- TOPMed rs2065384316
- Uncertain significance
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- REVEL 0.70
- CADD 22.10
- PolyPhen-2 0.98
- SIFT 0.01
- 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 6.3e-06)
- Structural context available
- Cited in: Adenosine Deaminase Deficiency. (PMID 20301656)