F7L (p.Phe7Leu) variant of ADA (Adenosine deaminase)
F7L (p.Phe7Leu) 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 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
F7L (p.Phe7Leu) variant details
- p.Phe7Leu
- rs2516234946
- ClinGen CA409122599
- ClinVar RCV002913911
- Uncertain significance
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.48
- CADD 27.10
- PolyPhen-2 0.03
- SIFT 0.03
- ClinVar: Uncertain significance (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Adenosine Deaminase Deficiency. (PMID 20301656)