H34H (p.His34His) variant of ETV6 (Transcription factor ETV6)
H34H (p.His34His) 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.
H34H (p.His34His) variant details
- p.His34His
- rs767627393
- gnomAD 12-11752518-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.379
- CADD 12.10
- Most common in the Ashkenazi Jewish population (allele frequency 0.00015)
- Structural context available
- Literature evidence available