I10V (p.Ile10Val) variant of ETV6 (Transcription factor ETV6)
I10V (p.Ile10Val) 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 0.24 / 1. The record also includes population frequency data and structural context.
I10V (p.Ile10Val) variant details
- p.Ile10Val
- Ensembl rs1242574618
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.12
- CADD 19.00
- PolyPhen-2 0.00
- SIFT 0.71
- ClinVar: Likely benign (Inborn genetic diseases)
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available