A40S (p.Ala40Ser) variant of BRD4 (Bromodomain-containing protein 4)
A40S (p.Ala40Ser) 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 0.28 / 1. The record also includes experimental measurements and structural context.
A40S (p.Ala40Ser) variant details
- p.Ala40Ser
- rs768982122
- ClinGen CA404489769
- ClinVar RCV003579403
- ExAC rs768982122
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- AlphaMissense 0.08
- MetaLR 0.02
- MetaSVM -1.01
- PolyPhen-2 0.00
- SIFT 0.20
- EVE 0.11
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- BRD4 NET domain domainome 1.0: score -0.011