P168A (p.Pro168Ala) variant of RELA (Transcription factor p65)
P168A (p.Pro168Ala) 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 0.29 / 1. The record also includes population frequency data.
P168A (p.Pro168Ala) variant details
- p.Pro168Ala
- rs1416924926
- ClinGen CA381392932
- ClinVar RCV002807045
- TOPMed rs1416924926
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.01
- CADD 13.00
- PolyPhen-2 0.00
- SIFT 0.58
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)