C10F (p.Cys10Phe) variant of ETFDH (Q16134)
C10F (p.Cys10Phe) in ETFDH (Q16134) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
C10F (p.Cys10Phe) variant details
- p.Cys10Phe
- gnomAD 4-158672485-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- REVEL 0.41
- CADD 23.00
- PolyPhen-2 0.01
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 8.1e-06)
- Structural context available
- Literature evidence available