V5L (p.Val5Leu) variant of TAFAZZIN (Q16635)
V5L (p.Val5Leu) in TAFAZZIN (Q16635) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
V5L (p.Val5Leu) variant details
- p.Val5Leu
- rs397515737
- ClinGen CA131101
- ClinVar RCV000035086
- ClinVar RCV000766522
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.706
- CADD 25.80
- PolyPhen-2 0.98
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.00075)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Barth Syndrome. (PMID 25299040)