I61V (p.Ile61Val) variant of RELA (Transcription factor p65)
I61V (p.Ile61Val) 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; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
I61V (p.Ile61Val) variant details
- p.Ile61Val
- rs2496869423
- ClinGen CA381394795
- ClinVar RCV003011791
- ClinVar RCV004857939
- Uncertain significance
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.03
- CADD 23.10
- PolyPhen-2 0.03
- SIFT 0.05
- ClinVar: Uncertain significance (not provided; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available