Y51H (p.Tyr51His) variant of TAFAZZIN (Q16635)
Y51H (p.Tyr51His) in TAFAZZIN (Q16635) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
Y51H (p.Tyr51His) variant details
- p.Tyr51His
- gnomAD X-154412127-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.36
- Most common in the East Asian population (allele frequency 3.3e-05)
- Structural context available
- Literature evidence available