K6T (p.Lys6Thr) variant of TAFAZZIN (Q16635)
K6T (p.Lys6Thr) in TAFAZZIN (Q16635) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
K6T (p.Lys6Thr) variant details
- p.Lys6Thr
- gnomAD X-154411860-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- CADD 22.90
- PolyPhen-2 0.99
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available