A49G (p.Ala49Gly) variant of BRD2 (Bromodomain-containing protein 2)
A49G (p.Ala49Gly) in BRD2 (Bromodomain-containing protein 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
A49G (p.Ala49Gly) variant details
- p.Ala49Gly
- rs3918144
- cosmic curated COSV66374
- UniProt VAR 041905
- 1000Genomes rs3918144
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.13
- CADD 23.00
- PolyPhen-2 0.26
- SIFT 0.17
- 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)