A138V (p.Ala138Val) variant of BRD3 (Bromodomain-containing protein 3)
A138V (p.Ala138Val) in BRD3 (Bromodomain-containing protein 3) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data.
A138V (p.Ala138Val) variant details
- p.Ala138Val
- NCI-TCGA Cosmic COSV5770
- cosmic curated COSV57702
- Ensembl rs2132426914
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.26
- CADD 24.10
- PolyPhen-2 0.13
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available