V177M (p.Val177Met) variant of ADA (Adenosine deaminase)
V177M (p.Val177Met) 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 Severe combined immunodeficiency disease; Severe combined immunodeficiency, auto. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
V177M (p.Val177Met) variant details
- p.Val177Met
- rs121908719
- ClinGen CA266016
- ClinVar RCV000059107
- ClinVar RCV005430961
- Pathogenic/Likely pathogenic
- Severe combined immunodeficiency disease; Severe combined immunodeficiency, auto
- Missense
- Variant Prioritization Score for Impact Estimate 0.795
- REVEL 0.89
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Severe combined immunodeficiency disease; Severe combined immuno)
- EBI: Pathogenic (in ADASCID)
- UniProt: Pathogenic (in ADASCID)
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available
- Cited in: Novel splicing, missense, and deletion mutations in seven adenosine deaminase-deficient patients with late/delayed… (PMID 8227344)
- Cited in: Seven novel mutations in the adenosine deaminase (ADA) gene in patients with severe and delayed onset combined… (PMID 10200056)