A12A (p.Ala12Ala) variant of ETFDH (Q16134)
A12A (p.Ala12Ala) in ETFDH (Q16134) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
A12A (p.Ala12Ala) variant details
- p.Ala12Ala
- rs201254467
- gnomAD 4-158680468-A-G
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.135
- CADD 7.67
- Population evidence available
- Structural context available
- Literature evidence available