D120M (p.Asp120Met) variant of CBS (Cystathionine beta-synthase)
D120M (p.Asp120Met) in CBS (Cystathionine beta-synthase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D120M (p.Asp120Met) variant details
- p.Asp120Met
- rs1218599058
- gnomAD 21-43055889-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.0903
- CADD 1.37
- Population evidence available
- Structural context available
- CBS low-B6 imputed and refined: score 0.23
- Literature evidence available