V23I (p.Val23Ile) variant of TAFAZZIN (Q16635)
V23I (p.Val23Ile) in TAFAZZIN (Q16635) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The record also includes structural context.
V23I (p.Val23Ile) variant details
- p.Val23Ile
- rs2522919882
- ClinGen CA415178339
- ClinVar RCV002460783
- cosmic curated COSV50010
- Uncertain significance
- Cardiovascular phenotype
- Missense
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available