D47A (p.Asp47Ala) variant of CBS (Cystathionine beta-synthase)
D47A (p.Asp47Ala) 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 0.55 / 1. The record also includes experimental measurements and structural context.
D47A (p.Asp47Ala) variant details
- p.Asp47Ala
- rs2146427913
- ClinGen CA410602362
- ClinVar RCV002006214
- Ensembl rs2146427913
- Likely pathogenic
- HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- ESM-1b 0.00
- AlphaMissense 0.46
- MetaLR 0.96
- MetaSVM 0.99
- SIFT 0.01
- MutPred 0.09
- ClinVar: Likely pathogenic (HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- CBS low-B6: score 0