R14L (p.Arg14Leu) variant of ETV6 (Transcription factor ETV6)
R14L (p.Arg14Leu) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
R14L (p.Arg14Leu) variant details
- p.Arg14Leu
- rs781494988
- ClinGen CA6454097
- ClinVar RCV003567759
- ExAC rs781494988
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.14
- CADD 25.60
- PolyPhen-2 0.24
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available