T44A (p.Thr44Ala) variant of ETFDH (Q16134)
T44A (p.Thr44Ala) in ETFDH (Q16134) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
T44A (p.Thr44Ala) variant details
- p.Thr44Ala
- gnomAD 4-158680562-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.672
- REVEL 0.72
- CADD 23.30
- PolyPhen-2 0.33
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available