D88V (p.Asp88Val) variant of BRD4 (Bromodomain-containing protein 4)
D88V (p.Asp88Val) in BRD4 (Bromodomain-containing protein 4) 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 0.45 / 1. The record also includes structural context.
D88V (p.Asp88Val) variant details
- p.Asp88Val
- rs2145624320
- ClinGen CA404488689
- ClinVar RCV001755169
- Ensembl rs2145624320
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- AlphaMissense 0.99
- MetaLR 0.27
- MetaSVM -0.23
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.55
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available