M48V (p.Met48Val) variant of BRD2 (Bromodomain-containing protein 2)
M48V (p.Met48Val) in BRD2 (Bromodomain-containing protein 2) 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 0.31 / 1. The record also includes population frequency data and structural context.
M48V (p.Met48Val) variant details
- p.Met48Val
- cosmic curated COSV10087
- ESP rs369193752
- gnomAD rs369193752
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.11
- CADD 23.30
- PolyPhen-2 0.04
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available