P37S (p.Pro37Ser) variant of BRD4 (Bromodomain-containing protein 4)
P37S (p.Pro37Ser) 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 Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes experimental measurements, published literature, and structural context.
P37S (p.Pro37Ser) variant details
- p.Pro37Ser
- rs35177876
- ClinGen CA305783225
- ClinVar RCV003383989
- UniProt VAR 041919
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- AlphaMissense 0.07
- MetaLR 0.05
- MetaSVM -1.06
- PolyPhen-2 0.00
- SIFT 0.30
- EVE 0.08
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance (in dbSNP:rs35177876)
- UniProt: Uncertain significance (in dbSNP:rs35177876)
- Structural context available
- BRD4 NET domain domainome 1.0: score -0.118
- Cited in: Patterns of somatic mutation in human cancer genomes. (PMID 17344846)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)