L4V (p.Leu4Val) variant of RELA (Transcription factor p65)
L4V (p.Leu4Val) in RELA (Transcription factor p65) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data.
L4V (p.Leu4Val) variant details
- p.Leu4Val
- ExAC rs750044010
- TOPMed rs750044010
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.11
- CADD 15.90
- PolyPhen-2 0.18
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)