H15P (p.His15Pro) variant of ADA (Adenosine deaminase)
H15P (p.His15Pro) in ADA (Adenosine deaminase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic 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 0.82 / 1. The record also includes population frequency data and structural context.
H15P (p.His15Pro) variant details
- p.His15Pro
- gnomAD rs1209280928
- Pathogenic
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- REVEL 0.95
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- EBI: Likely pathogenic (in ADASCID)
- UniProt: Likely pathogenic (in ADASCID)
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available