H111Y (p.His111Tyr) variant of RELA (Transcription factor p65)
H111Y (p.His111Tyr) 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 0.46 / 1. The record also includes population frequency data and structural context.
H111Y (p.His111Tyr) variant details
- p.His111Tyr
- rs769755404
- ClinGen CA6106929
- cosmic curated COSV58013
- ClinVar RCV001901870
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.23
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.05
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available