A42T (p.Ala42Thr) variant of BAX (Apoptosis regulator BAX)
A42T (p.Ala42Thr) in BAX (Apoptosis regulator BAX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
A42T (p.Ala42Thr) variant details
- p.Ala42Thr
- gnomAD rs1039312028
- Missense
- Variant Prioritization Score for Impact Estimate 0.0804
- REVEL 0.01
- CADD 8.28
- PolyPhen-2 0.00
- SIFT 0.84
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available