P176L (p.Pro176Leu) variant of RELA (Transcription factor p65)
P176L (p.Pro176Leu) in RELA (Transcription factor p65) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data.
P176L (p.Pro176Leu) variant details
- p.Pro176Leu
- cosmic curated COSV58016
- ExAC rs747469170
- TOPMed rs747469170
- gnomAD rs747469170
- Uncertain significance
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.20
- CADD 19.20
- PolyPhen-2 0.00
- SIFT 0.03
- ClinVar: Uncertain significance (not provided; not specified)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)