R47C (p.Arg47Cys) variant of TAFAZZIN (Q16635)
R47C (p.Arg47Cys) in TAFAZZIN (Q16635) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data, published literature, and structural context.
R47C (p.Arg47Cys) variant details
- p.Arg47Cys
- rs1429900386
- gnomAD X-154418569-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0453
- CADD 0.02
- SIFT 0.12
- Most common in the Latino/Admixed American population (allele frequency 9.4e-05)
- Structural context available
- Literature evidence available