T43I (p.Thr43Ile) variant of ETFDH (Q16134)
T43I (p.Thr43Ile) in ETFDH (Q16134) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
T43I (p.Thr43Ile) variant details
- p.Thr43Ile
- TOPMed rs774060297
- gnomAD rs774060297
- Missense
- Variant Prioritization Score for Impact Estimate 0.8
- REVEL 0.81
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available