S15G (p.Ser15Gly) variant of BAX (Apoptosis regulator BAX)
S15G (p.Ser15Gly) 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 0.33 / 1. The record also includes population frequency data and structural context.
S15G (p.Ser15Gly) variant details
- p.Ser15Gly
- rs151036634
- ClinGen CA9562131
- ClinVar RCV004194015
- 1000Genomes rs151036634
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.13
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.33
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available