P41L (p.Pro41Leu) variant of CBS (Cystathionine beta-synthase)
P41L (p.Pro41Leu) in CBS (Cystathionine beta-synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Classic homocystinuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes experimental measurements and structural context.
P41L (p.Pro41Leu) variant details
- p.Pro41Leu
- gnomAD rs1315746924
- Uncertain significance
- Classic homocystinuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- ESM-1b 0.00
- AlphaMissense 0.06
- ClinVar: Uncertain significance (Classic homocystinuria)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- CBS low-B6 imputed and refined: score 0.681