V49I (p.Val49Ile) variant of ADA (Adenosine deaminase)
V49I (p.Val49Ile) 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 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
V49I (p.Val49Ile) variant details
- p.Val49Ile
- rs1306348962
- ClinGen CA409121864
- ClinVar RCV001142656
- TOPMed rs1306348962
- Uncertain significance
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.125
- REVEL 0.17
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.46
- ClinVar: Uncertain significance (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available
- Cited in: Adenosine Deaminase Deficiency. (PMID 20301656)