T47N (p.Thr47Asn) variant of ETFDH (Q16134)
T47N (p.Thr47Asn) in ETFDH (Q16134) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
T47N (p.Thr47Asn) variant details
- p.Thr47Asn
- gnomAD 4-158680572-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.40
- CADD 19.60
- PolyPhen-2 0.39
- SIFT 0.09
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available