A49S (p.Ala49Ser) variant of BRD2 (Bromodomain-containing protein 2)
A49S (p.Ala49Ser) in BRD2 (Bromodomain-containing protein 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
A49S (p.Ala49Ser) variant details
- p.Ala49Ser
- rs55669504
- cosmic curated COSV66374
- UniProt VAR 041906
- 1000Genomes rs55669504
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.10
- CADD 19.10
- PolyPhen-2 0.03
- SIFT 1.00
- Most common in the HGDP:KALASH population (allele frequency 0.12)
- Structural context available
- Cited in: Patterns of somatic mutation in human cancer genomes. (PMID 17344846)