V21A (p.Val21Ala) variant of RELA (Transcription factor p65)
V21A (p.Val21Ala) 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 0.48 / 1. The record also includes population frequency data and structural context.
V21A (p.Val21Ala) variant details
- p.Val21Ala
- rs2496870169
- ClinGen CA381395075
- ClinVar RCV004443811
- ClinVar RCV006484051
- Uncertain significance
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.35
- CADD 27.40
- PolyPhen-2 0.91
- SIFT 0.02
- ClinVar: Uncertain significance (not provided; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available