A91V (p.Ala91Val) variant of ADA (Adenosine deaminase)
A91V (p.Ala91Val) 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 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
A91V (p.Ala91Val) variant details
- p.Ala91Val
- rs2065384431
- ClinGen CA409121445
- ClinVar RCV001218957
- Ensembl rs2065384431
- Uncertain significance
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.759
- REVEL 0.83
- CADD 24.60
- PolyPhen-2 0.56
- SIFT 0.00
- 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 1.7e-05)
- Structural context available
- Cited in: Adenosine Deaminase Deficiency. (PMID 20301656)