D47N (p.Asp47Asn) variant of CBS (Cystathionine beta-synthase)
D47N (p.Asp47Asn) in CBS (Cystathionine beta-synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes experimental measurements and structural context.
D47N (p.Asp47Asn) variant details
- p.Asp47Asn
- rs2517483238
- ClinGen CA410602367
- ClinVar RCV002730976
- Likely pathogenic
- HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- ESM-1b 0.00
- AlphaMissense 0.20
- ClinVar: Likely pathogenic (HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- CBS low-B6: score 0