C10Y (p.Cys10Tyr) variant of ETFDH (Q16134)
C10Y (p.Cys10Tyr) 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.
C10Y (p.Cys10Tyr) variant details
- p.Cys10Tyr
- gnomAD 4-158672485-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.44
- CADD 23.00
- PolyPhen-2 0.03
- SIFT 0.17
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available