V24V (p.Val24Val) variant of ETV6 (Transcription factor ETV6)
V24V (p.Val24Val) in ETV6 (Transcription factor ETV6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
V24V (p.Val24Val) variant details
- p.Val24Val
- rs143194205
- gnomAD 12-11752488-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.433
- CADD 11.50
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available
- Literature evidence available