D54Y (p.Asp54Tyr) variant of ETFDH (Q16134)
D54Y (p.Asp54Tyr) in ETFDH (Q16134) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
D54Y (p.Asp54Tyr) variant details
- p.Asp54Tyr
- gnomAD 4-158680592-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.838
- REVEL 0.84
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available