V165A (p.Val165Ala) variant of RELA (Transcription factor p65)
V165A (p.Val165Ala) 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 0.39 / 1. The record also includes population frequency data.
V165A (p.Val165Ala) variant details
- p.Val165Ala
- rs957917859
- ClinGen CA224010160
- ClinVar RCV001884388
- TOPMed rs957917859
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.23
- CADD 24.40
- PolyPhen-2 0.44
- SIFT 0.01
- 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)