R57Q (p.Arg57Gln) variant of TAFAZZIN (Q16635)
R57Q (p.Arg57Gln) in TAFAZZIN (Q16635) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact in the context of in BTHS. The record also includes structural context.
R57Q (p.Arg57Gln) variant details
- p.Arg57Gln
- NCI-TCGA Cosmic COSV5001
- cosmic curated COSV50010
- Variant assessed as somatic; moderate impact.
- in BTHS
- Missense
- UniProt: Variant assessed as somatic; moderate impact. (in BTHS)
- Structural context available