L56P (p.Leu56Pro) variant of CBS (Cystathionine beta-synthase)
L56P (p.Leu56Pro) in CBS (Cystathionine beta-synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes experimental measurements and structural context.
L56P (p.Leu56Pro) variant details
- p.Leu56Pro
- gnomAD rs1180472259
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- ESM-1b 0.00
- AlphaMissense 0.06
- Structural context available
- CBS low-B6 imputed and refined: score 0.589