T43A (p.Thr43Ala) variant of ETFDH (Q16134)
T43A (p.Thr43Ala) in ETFDH (Q16134) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
T43A (p.Thr43Ala) variant details
- p.Thr43Ala
- gnomAD 4-158680559-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.716
- REVEL 0.85
- CADD 23.90
- PolyPhen-2 1.00
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Literature evidence available