A18D (p.Ala18Asp) variant of ETFDH (Q16134)
A18D (p.Ala18Asp) in ETFDH (Q16134) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
A18D (p.Ala18Asp) variant details
- p.Ala18Asp
- gnomAD 4-158680485-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- REVEL 0.45
- CADD 20.80
- PolyPhen-2 0.10
- SIFT 0.16
- Population evidence available
- Structural context available
- Literature evidence available