N46Y (p.Asn46Tyr) variant of TAFAZZIN (Q16635)
N46Y (p.Asn46Tyr) 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.
N46Y (p.Asn46Tyr) variant details
- p.Asn46Tyr
- rs2522923870
- ClinGen CA415179495
- ClinVar RCV003310695
- Uncertain significance
- Cardiovascular phenotype
- Missense
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available