S51R (p.Ser51Arg) variant of RELA (Transcription factor p65)
S51R (p.Ser51Arg) in RELA (Transcription factor p65) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data.
S51R (p.Ser51Arg) variant details
- p.Ser51Arg
- ExAC rs770416604
- TOPMed rs770416604
- gnomAD rs770416604
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.45
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)