V12M (p.Val12Met) variant of ADA (Adenosine deaminase)
V12M (p.Val12Met) 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 0.83 / 1. The record also includes population frequency data and structural context.
V12M (p.Val12Met) variant details
- p.Val12Met
- NCI-TCGA Cosmic COSV6574
- cosmic curated COSV65740
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- REVEL 0.87
- CADD 26.00
- PolyPhen-2 0.99
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available