V72L (p.Val72Leu) variant of RELA (Transcription factor p65)
V72L (p.Val72Leu) in RELA (Transcription factor p65) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data.
V72L (p.Val72Leu) variant details
- p.Val72Leu
- gnomAD rs1412466213
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.20
- CADD 23.00
- PolyPhen-2 0.11
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)