S30S (p.Ser30Ser) variant of ETV6 (Transcription factor ETV6)
S30S (p.Ser30Ser) in ETV6 (Transcription factor ETV6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
S30S (p.Ser30Ser) variant details
- p.Ser30Ser
- rs1245345088
- gnomAD 12-11752506-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.136
- CADD 7.88
- Most common in the African/African-American population (allele frequency 9.6e-05)
- Structural context available
- Literature evidence available