L207V (p.Leu207Val) variant of RELA (Transcription factor p65)
L207V (p.Leu207Val) 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 specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data.
L207V (p.Leu207Val) variant details
- p.Leu207Val
- rs1194237734
- ClinGen CA381391748
- ClinVar RCV001909006
- ClinVar RCV005271484
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.02
- CADD 17.40
- PolyPhen-2 0.03
- SIFT 0.23
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)