S22I (p.Ser22Ile) variant of ETV6 (Transcription factor ETV6)
S22I (p.Ser22Ile) in ETV6 (Transcription factor ETV6) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
S22I (p.Ser22Ile) variant details
- p.Ser22Ile
- TOPMed rs1300012416
- gnomAD rs1300012416
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.20
- CADD 26.10
- PolyPhen-2 0.65
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available