Y100C (p.Tyr100Cys) variant of RELA (Transcription factor p65)
Y100C (p.Tyr100Cys) in RELA (Transcription factor p65) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data.
Y100C (p.Tyr100Cys) variant details
- p.Tyr100Cys
- 1000Genomes rs562262364
- ExAC rs562262364
- gnomAD rs562262364
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.32
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.29
- Most common in the 1KG:JPT population (allele frequency 0.0049)