A30D (p.Ala30Asp) variant of ETFDH (Q16134)
A30D (p.Ala30Asp) in ETFDH (Q16134) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
A30D (p.Ala30Asp) variant details
- p.Ala30Asp
- gnomAD 4-158680521-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.29
- CADD 11.10
- PolyPhen-2 0.01
- SIFT 0.36
- Population evidence available
- Structural context available
- Literature evidence available