K119K (p.Lys119Lys) variant of CBS (Cystathionine beta-synthase)
K119K (p.Lys119Lys) in CBS (Cystathionine beta-synthase) is a synonymous 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.
K119K (p.Lys119Lys) variant details
- p.Lys119Lys
- rs79861734
- gnomAD 21-43055891-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0882
- CADD 1.06
- Population evidence available
- Structural context available
- CBS low-B6 imputed and refined: score 0.0355
- Literature evidence available