G3W (p.Gly3Trp) variant of BAX (Apoptosis regulator BAX)
G3W (p.Gly3Trp) in BAX (Apoptosis regulator BAX) is a missense change. Clinical records from ClinVar, EBI, 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 0.36 / 1. The record also includes population frequency data and structural context.
G3W (p.Gly3Trp) variant details
- p.Gly3Trp
- rs553879570
- ClinGen CA9562100
- ClinVar RCV004189962
- ExAC rs553879570
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.12
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available