M38L (p.Met38Leu) variant of BAX (Apoptosis regulator BAX)
M38L (p.Met38Leu) in BAX (Apoptosis regulator BAX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
M38L (p.Met38Leu) variant details
- p.Met38Leu
- gnomAD 19-48955712-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.13
- MetaLR 0.04
- MetaSVM -1.03
- CADD 18.80
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Literature evidence available