P10S (p.Pro10Ser) variant of RELA (Transcription factor p65)
P10S (p.Pro10Ser) 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 0.12 / 1. The record also includes population frequency data.
P10S (p.Pro10Ser) variant details
- p.Pro10Ser
- rs1263528129
- ClinGen CA381395159
- ClinVar RCV002681201
- TOPMed rs1263528129
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.125
- REVEL 0.03
- CADD 14.90
- PolyPhen-2 0.01
- SIFT 0.31
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)