A14V (p.Ala14Val) variant of RELA (Transcription factor p65)
A14V (p.Ala14Val) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data.
A14V (p.Ala14Val) variant details
- p.Ala14Val
- gnomAD rs1332337161
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.127
- REVEL 0.03
- CADD 14.30
- PolyPhen-2 0.00
- SIFT 0.45
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Population evidence available