K6N (p.Lys6Asn) variant of TAFAZZIN (Q16635)
K6N (p.Lys6Asn) in TAFAZZIN (Q16635) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of 3-Methylglutaconic aciduria type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
K6N (p.Lys6Asn) variant details
- p.Lys6Asn
- rs782245384
- ClinGen CA10562255
- ClinVar RCV002613639
- ExAC rs782245384
- Uncertain significance
- 3-Methylglutaconic aciduria type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- CADD 18.30
- PolyPhen-2 0.99
- SIFT 0.09
- ClinVar: Uncertain significance (3-Methylglutaconic aciduria type 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.3e-06)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Barth Syndrome. (PMID 25299040)