W57C (p.Trp57Cys) variant of ETFDH (Q16134)
W57C (p.Trp57Cys) in ETFDH (Q16134) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
W57C (p.Trp57Cys) variant details
- p.Trp57Cys
- TOPMed rs949249162
- gnomAD rs949249162
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.83
- REVEL 0.84
- CADD 30.00
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9.9e-06)
- Structural context available