K56Q (p.Lys56Gln) variant of TAFAZZIN (Q16635)
K56Q (p.Lys56Gln) in TAFAZZIN (Q16635) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
K56Q (p.Lys56Gln) variant details
- p.Lys56Gln
- gnomAD X-154412142-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- CADD 22.50
- PolyPhen-2 0.08
- SIFT 0.32
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available