P40T (p.Pro40Thr) variant of ETFDH (Q16134)
P40T (p.Pro40Thr) in ETFDH (Q16134) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
P40T (p.Pro40Thr) variant details
- p.Pro40Thr
- gnomAD 4-158680550-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.731
- REVEL 0.71
- CADD 24.00
- PolyPhen-2 0.61
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available