L33I (p.Leu33Ile) variant of ETV6 (Transcription factor ETV6)
L33I (p.Leu33Ile) in ETV6 (Transcription factor ETV6) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
L33I (p.Leu33Ile) variant details
- p.Leu33Ile
- ExAC rs756629283
- gnomAD rs756629283
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.13
- CADD 22.90
- PolyPhen-2 0.90
- SIFT 0.44
- ClinVar: Likely benign (Inborn genetic diseases)
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available