L107P (p.Leu107Pro) variant of ADA (Adenosine deaminase)
L107P (p.Leu107Pro) in ADA (Adenosine deaminase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic 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 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
L107P (p.Leu107Pro) variant details
- p.Leu107Pro
- rs121908739
- ClinGen CA252006
- ClinVar RCV000002042
- ClinVar RCV000255602
- Pathogenic/Likely pathogenic
- not provided; Severe combined immunodeficiency disease; Severe combined immunode
- Missense
- Variant Prioritization Score for Impact Estimate 0.806
- REVEL 0.92
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Severe combined immunodeficiency disease; Severe c)
- EBI: Pathogenic (in ADASCID)
- UniProt: Pathogenic (in ADASCID)
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Hot spot mutations in adenosine deaminase deficiency. (PMID 2166947)
- Cited in: Seven novel mutations in the adenosine deaminase (ADA) gene in patients with severe and delayed onset combined… (PMID 10200056)