I130V (p.Ile130Val) variant of RELA (Transcription factor p65)
I130V (p.Ile130Val) in RELA (Transcription factor p65) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data.
I130V (p.Ile130Val) variant details
- p.Ile130Val
- gnomAD rs1429314714
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.05
- CADD 19.60
- PolyPhen-2 0.10
- SIFT 0.28
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)