C15Y (p.Cys15Tyr) variant of ETFDH (Q16134)
C15Y (p.Cys15Tyr) in ETFDH (Q16134) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
C15Y (p.Cys15Tyr) variant details
- p.Cys15Tyr
- gnomAD 4-158680476-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.34
- CADD 21.70
- PolyPhen-2 0.00
- SIFT 0.26
- Population evidence available
- Structural context available
- Literature evidence available