D120D (p.Asp120Asp) variant of CBS (Cystathionine beta-synthase)
D120D (p.Asp120Asp) in CBS (Cystathionine beta-synthase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D120D (p.Asp120Asp) variant details
- p.Asp120Asp
- rs1601326852
- gnomAD 21-43055888-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0967
- CADD 2.26
- Most common in the Non-Finnish European population (allele frequency 3.4e-05)
- Structural context available
- CBS low-B6 imputed and refined: score 0.23
- Literature evidence available