D120V (p.Asp120Val) variant of CBS (Cystathionine beta-synthase)
D120V (p.Asp120Val) in CBS (Cystathionine beta-synthase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D120V (p.Asp120Val) variant details
- p.Asp120Val
- rs767504311
- gnomAD 21-43055888-AT-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.0821
- CADD 0.23
- Most common in the African/African-American population (allele frequency 0.0002)
- Structural context available
- CBS low-B6 imputed and refined: score 0.23
- Literature evidence available