V199A (p.Val199Ala) variant of RELA (Transcription factor p65)
V199A (p.Val199Ala) in RELA (Transcription factor p65) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Mucocutaneous ulceration, chronic; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data.
V199A (p.Val199Ala) variant details
- p.Val199Ala
- rs145138143
- ClinGen CA6106838
- ClinVar RCV001839219
- ClinVar RCV002077325
- Conflicting interpretations
- Mucocutaneous ulceration, chronic; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.34
- CADD 27.30
- PolyPhen-2 0.69
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Mucocutaneous ulceration, chronic; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 0.0012)