C10W (p.Cys10Trp) variant of ETFDH (Q16134)
C10W (p.Cys10Trp) 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 and structural context.
C10W (p.Cys10Trp) variant details
- p.Cys10Trp
- Ensembl rs1773598027
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.55
- CADD 23.90
- PolyPhen-2 0.16
- SIFT 0.04
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available