Y20C (p.Tyr20Cys) variant of RELA (Transcription factor p65)
Y20C (p.Tyr20Cys) 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 0.30 / 1. The record also includes population frequency data and structural context.
Y20C (p.Tyr20Cys) variant details
- p.Tyr20Cys
- rs765199827
- ClinGen CA6106985
- ClinVar RCV001993929
- ExAC rs765199827
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.13
- CADD 24.40
- PolyPhen-2 0.69
- SIFT 0.06
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available