H53H (p.His53His) variant of ETV6 (Transcription factor ETV6)
H53H (p.His53His) in ETV6 (Transcription factor ETV6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
H53H (p.His53His) variant details
- p.His53His
- rs1252021275
- gnomAD 12-11752575-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.378
- CADD 12.90
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available