D120R (p.Asp120Arg) variant of CBS (Cystathionine beta-synthase)
D120R (p.Asp120Arg) in CBS (Cystathionine beta-synthase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D120R (p.Asp120Arg) variant details
- p.Asp120Arg
- rs750570864
- gnomAD 21-43055890-C-CT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.109
- CADD 4.03
- Most common in the Latino/Admixed American population (allele frequency 0.077)
- Structural context available
- CBS low-B6 imputed and refined: score 0.23
- Literature evidence available