T43N (p.Thr43Asn) variant of ETFDH (Q16134)
T43N (p.Thr43Asn) in ETFDH (Q16134) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
T43N (p.Thr43Asn) variant details
- p.Thr43Asn
- gnomAD 4-158680560-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- REVEL 0.76
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available