D129N (p.Asp129Asn) variant of CBS (Cystathionine beta-synthase)
D129N (p.Asp129Asn) in CBS (Cystathionine beta-synthase) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic/likely pathogenic in the context of HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; Homocystinuria; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes experimental measurements and structural context.
D129N (p.Asp129Asn) variant details
- p.Asp129Asn
- NCI-TCGA Cosmic COSV6144
- cosmic curated COSV61445
- Pathogenic/Likely pathogenic
- HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; Homocystinuria; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.615
- ESM-1b 1.00
- AlphaMissense 0.15
- ClinVar: Pathogenic/Likely pathogenic (HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; Homocystinuria; n)
- UniProt: Likely pathogenic
- Structural context available
- CBS low-B6 imputed and refined: score 0.446