K119R (p.Lys119Arg) variant of CBS (Cystathionine beta-synthase)
K119R (p.Lys119Arg) in CBS (Cystathionine beta-synthase) is a protein-truncating 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.
K119R (p.Lys119Arg) variant details
- p.Lys119Arg
- rs750570864
- gnomAD 21-43055890-CTT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.0969
- CADD 2.29
- Most common in the Ashkenazi Jewish population (allele frequency 0.0042)
- Structural context available
- CBS low-B6 imputed and refined: score 0.0355
- Literature evidence available