Y46Y (p.Tyr46Tyr) variant of ETFDH (Q16134)
Y46Y (p.Tyr46Tyr) in ETFDH (Q16134) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
Y46Y (p.Tyr46Tyr) variant details
- p.Tyr46Tyr
- rs761186585
- gnomAD 4-158680570-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0985
- CADD 2.52
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available