F9L (p.Phe9Leu) variant of TAFAZZIN (Q16635)
F9L (p.Phe9Leu) in TAFAZZIN (Q16635) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of 3-Methylglutaconic aciduria type 2; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
F9L (p.Phe9Leu) variant details
- p.Phe9Leu
- rs1223065368
- ClinGen CA415178018
- ClinVar RCV001042821
- ClinVar RCV002462272
- Conflicting interpretations
- 3-Methylglutaconic aciduria type 2; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- CADD 24.00
- PolyPhen-2 0.95
- SIFT 0.13
- ClinVar: Conflicting classifications of pathogenicity (3-Methylglutaconic aciduria type 2; Cardiovascular phenotype)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Barth Syndrome. (PMID 25299040)