V112L (p.Val112Leu) variant of ADA (Adenosine deaminase)
V112L (p.Val112Leu) in ADA (Adenosine deaminase) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
V112L (p.Val112Leu) variant details
- p.Val112Leu
- rs1427855345
- NCI-TCGA Cosmic COSV6574
- cosmic curated COSV65740
- TOPMed rs1427855345
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- REVEL 0.58
- CADD 22.20
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available