A24S (p.Ala24Ser) variant of BAX (Apoptosis regulator BAX)
A24S (p.Ala24Ser) in BAX (Apoptosis regulator BAX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
A24S (p.Ala24Ser) variant details
- p.Ala24Ser
- gnomAD 19-48955583-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.09
- MetaLR 0.15
- MetaSVM -1.00
- CADD 22.80
- PolyPhen-2 0.12
- SIFT 0.20
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Literature evidence available