W7R (p.Trp7Arg) variant of TAFAZZIN (Q16635)
W7R (p.Trp7Arg) in TAFAZZIN (Q16635) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
W7R (p.Trp7Arg) variant details
- p.Trp7Arg
- gnomAD X-154413278-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- CADD 9.22
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available