S4P (p.Ser4Pro) variant of BAX (Apoptosis regulator BAX)
S4P (p.Ser4Pro) 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 0.35 / 1. The record also includes population frequency data and structural context.
S4P (p.Ser4Pro) variant details
- p.Ser4Pro
- rs894774952
- ClinGen CA406749195
- ClinVar RCV004121640
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.15
- CADD 32.00
- PolyPhen-2 0.11
- SIFT 0.05
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available