D46N (p.Asp46Asn) variant of ETV6 (Transcription factor ETV6)
D46N (p.Asp46Asn) in ETV6 (Transcription factor ETV6) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
D46N (p.Asp46Asn) variant details
- p.Asp46Asn
- Ensembl rs2121068121
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.10
- CADD 25.90
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available