R49L (p.Arg49Leu) variant of ETV6 (Transcription factor ETV6)
R49L (p.Arg49Leu) in ETV6 (Transcription factor ETV6) is a missense change. Clinical records from ClinVar, EBI, 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 0.30 / 1. The record also includes population frequency data and structural context.
R49L (p.Arg49Leu) variant details
- p.Arg49Leu
- TOPMed rs1007158603
- gnomAD rs1007158603
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.15
- CADD 24.20
- PolyPhen-2 0.06
- SIFT 0.05
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available