S22S (p.Ser22Ser) variant of ETV6 (Transcription factor ETV6)
S22S (p.Ser22Ser) in ETV6 (Transcription factor ETV6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
S22S (p.Ser22Ser) variant details
- p.Ser22Ser
- rs373836023
- gnomAD 12-11752482-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.257
- CADD 9.16
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Literature evidence available