M38N (p.Met38Asn) variant of BAX (Apoptosis regulator BAX)
M38N (p.Met38Asn) in BAX (Apoptosis regulator BAX) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
M38N (p.Met38Asn) variant details
- p.Met38Asn
- rs1318061746
- gnomAD 19-48955710-G-GA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.386
- CADD 25.00
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Literature evidence available