S34Y (p.Ser34Tyr) variant of ETFDH (Q16134)
S34Y (p.Ser34Tyr) in ETFDH (Q16134) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
S34Y (p.Ser34Tyr) variant details
- p.Ser34Tyr
- gnomAD 4-158680533-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- REVEL 0.49
- CADD 18.40
- PolyPhen-2 0.10
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available