T47S (p.Thr47Ser) variant of ETFDH (Q16134)
T47S (p.Thr47Ser) in ETFDH (Q16134) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
T47S (p.Thr47Ser) variant details
- p.Thr47Ser
- gnomAD 4-158680572-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.35
- CADD 17.50
- PolyPhen-2 0.01
- SIFT 0.29
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available