P81S (p.Pro81Ser) variant of RELA (Transcription factor p65)
P81S (p.Pro81Ser) 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 provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data.
P81S (p.Pro81Ser) variant details
- p.Pro81Ser
- rs1484848625
- ClinGen CA381394456
- cosmic curated COSV58014
- ClinVar RCV003731777
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.02
- CADD 20.60
- PolyPhen-2 0.03
- SIFT 0.54
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00026)