P23A (p.Pro23Ala) variant of BRD3 (Bromodomain-containing protein 3)
P23A (p.Pro23Ala) in BRD3 (Bromodomain-containing protein 3) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data.
P23A (p.Pro23Ala) variant details
- p.Pro23Ala
- ESP rs144468611
- ExAC rs144468611
- TOPMed rs144468611
- gnomAD rs144468611
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.18
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00019)