P13L (p.Pro13Leu) variant of BRD3 (Bromodomain-containing protein 3)
P13L (p.Pro13Leu) 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 0.32 / 1. The record also includes population frequency data.
P13L (p.Pro13Leu) variant details
- p.Pro13Leu
- rs370821220
- cosmic curated COSV57701
- ESP rs370821220
- ExAC rs370821220
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.11
- CADD 23.00
- PolyPhen-2 0.01
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)