A129T (p.Ala129Thr) variant of RELA (Transcription factor p65)
A129T (p.Ala129Thr) 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 0.42 / 1.
A129T (p.Ala129Thr) variant details
- p.Ala129Thr
- rs2135565555
- ClinGen CA381393547
- ClinVar RCV001915384
- Ensembl rs2135565555
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- AlphaMissense 0.95
- MetaLR 0.24
- MetaSVM -0.65
- PolyPhen-2 1.00
- SIFT 0.10
- MutPred 0.65
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance