S62R (p.Ser62Arg) variant of ETV6 (Transcription factor ETV6)
S62R (p.Ser62Arg) in ETV6 (Transcription factor ETV6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
S62R (p.Ser62Arg) variant details
- p.Ser62Arg
- ExAC rs755742361
- gnomAD rs755742361
- Missense
- Variant Prioritization Score for Impact Estimate 0.685
- REVEL 0.70
- CADD 28.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available