S9S (p.Ser9Ser) variant of ETFDH (Q16134)
S9S (p.Ser9Ser) in ETFDH (Q16134) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
S9S (p.Ser9Ser) variant details
- p.Ser9Ser
- rs746903871
- gnomAD 4-158672483-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.251
- CADD 14.70
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available
- Literature evidence available