K123del (p.Lys123del) variant of CBS (Cystathionine beta-synthase)
K123del (p.Lys123del) in CBS (Cystathionine beta-synthase) is a missense 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.
K123del (p.Lys123del) variant details
- rs750570864
- gnomAD 21-43055890-CTTT-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.11
- CADD 4.11
- Most common in the REMAINING population (allele frequency 0.0036)
- Structural context available
- CBS low-B6 imputed and refined: score 0.0355
- Literature evidence available