M38K (p.Met38Lys) variant of BAX (Apoptosis regulator BAX)
M38K (p.Met38Lys) in BAX (Apoptosis regulator BAX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
M38K (p.Met38Lys) variant details
- p.Met38Lys
- gnomAD 19-48955713-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.16
- MetaLR 0.11
- MetaSVM -0.99
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.32
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available