V87A (p.Val87Ala) variant of ADA (Adenosine deaminase)
V87A (p.Val87Ala) 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 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
V87A (p.Val87Ala) variant details
- p.Val87Ala
- rs778994749
- ClinGen CA9871718
- ClinVar RCV000694687
- ExAC rs778994749
- Uncertain significance
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- REVEL 0.69
- CADD 23.60
- PolyPhen-2 0.80
- SIFT 0.02
- ClinVar: Uncertain significance (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Adenosine Deaminase Deficiency. (PMID 20301656)