P49R (p.Pro49Arg) variant of CBS (Cystathionine beta-synthase)
P49R (p.Pro49Arg) in CBS (Cystathionine beta-synthase) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in CBSD. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes experimental measurements and structural context.
P49R (p.Pro49Arg) variant details
- p.Pro49Arg
- ESP rs148865119
- ExAC rs148865119
- gnomAD rs148865119
- Pathogenic
- in CBSD
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- ESM-1b 0.00
- AlphaMissense 0.08
- EBI: Pathogenic (in CBSD)
- UniProt: Pathogenic (in CBSD)
- Structural context available
- CBS high-B6 imputed and refined: score 0.253