E121V (p.Glu121Val) variant of ADA (Adenosine deaminase)
E121V (p.Glu121Val) in ADA (Adenosine deaminase) is a missense change. Clinical records from ClinVar 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 0.58 / 1. The record also includes population frequency data and structural context.
E121V (p.Glu121Val) variant details
- p.Glu121Val
- rs748035221
- NCI-TCGA Cosmic COSV6574
- cosmic curated COSV65740
- ExAC rs748035221
- Uncertain significance
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.58
- REVEL 0.64
- CADD 24.00
- PolyPhen-2 0.03
- SIFT 0.01
- ClinVar: Uncertain significance (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.1e-06)
- Structural context available