A16V (p.Ala16Val) variant of RELA (Transcription factor p65)
A16V (p.Ala16Val) 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 0.21 / 1. The record also includes population frequency data.
A16V (p.Ala16Val) variant details
- p.Ala16Val
- rs1376292952
- ClinGen CA381395105
- ClinVar RCV003663236
- gnomAD rs1376292952
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.05
- CADD 26.50
- PolyPhen-2 0.45
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)