L152M (p.Leu152Met) variant of ADA (Adenosine deaminase)
L152M (p.Leu152Met) 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 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
L152M (p.Leu152Met) variant details
- p.Leu152Met
- rs121908728
- ClinGen CA115292
- ClinVar RCV000002056
- ClinVar RCV000059105
- Uncertain significance
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- REVEL 0.82
- CADD 24.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:SINDHI population (allele frequency 0.023)
- Structural context available
- Cited in: Two newly identified mutations (Thr233Ile and Leu152Met) in partially adenosine deaminase-deficient (ADA-) individuals… (PMID 9225964)
- Cited in: Adenosine Deaminase Deficiency. (PMID 20301656)