C8S (p.Cys8Ser) variant of ETV6 (Transcription factor ETV6)
C8S (p.Cys8Ser) in ETV6 (Transcription factor ETV6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
C8S (p.Cys8Ser) variant details
- p.Cys8Ser
- gnomAD 12-11650150-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.07
- CADD 21.10
- PolyPhen-2 0.00
- SIFT 0.41
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available