L7F (p.Leu7Phe) variant of RELA (Transcription factor p65)
L7F (p.Leu7Phe) in RELA (Transcription factor p65) 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 0.27 / 1. The record also includes population frequency data.
L7F (p.Leu7Phe) variant details
- p.Leu7Phe
- rs2496871323
- ClinGen CA381395180
- ClinVar RCV003048742
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.08
- CADD 19.30
- PolyPhen-2 0.17
- SIFT 0.10
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)