P297Q (p.Pro297Gln) variant of ADA (Adenosine deaminase)
P297Q (p.Pro297Gln) in ADA (Adenosine deaminase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Severe combined immunodeficiency disease; Severe combined immunode. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
P297Q (p.Pro297Gln) variant details
- p.Pro297Gln
- rs121908718
- ClinGen CA115277
- ClinVar RCV000002038
- ClinVar RCV000059115
- Conflicting interpretations
- not provided; Severe combined immunodeficiency disease; Severe combined immunode
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- REVEL 0.95
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (not provided; Severe combined immunodeficiency disease; Severe c)
- EBI: Pathogenic (in ADASCID)
- UniProt: Pathogenic (in ADASCID)
- Most common in the Latino/Admixed American population (allele frequency 0.0012)
- Structural context available
- Cited in: Identification of a point mutation resulting in a heat-labile adenosine deaminase (ADA) in two unrelated children with… (PMID 2783588)
- Cited in: Seven novel mutations in the adenosine deaminase (ADA) gene in patients with severe and delayed onset combined… (PMID 10200056)