T31R (p.Thr31Arg) variant of ETFDH (Q16134)
T31R (p.Thr31Arg) in ETFDH (Q16134) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
T31R (p.Thr31Arg) variant details
- p.Thr31Arg
- gnomAD 4-158680524-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.38
- CADD 15.30
- PolyPhen-2 0.00
- SIFT 0.64
- Population evidence available
- Structural context available
- Literature evidence available