D444N (p.Asp444Asn) variant of CBS (Cystathionine beta-synthase)
D444N (p.Asp444Asn) 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 CBS-related disorder; Homocystinuria; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D444N (p.Asp444Asn) variant details
- p.Asp444Asn
- rs28934891
- ClinGen CA113893
- ClinVar RCV000000148
- ClinVar RCV000000149
- Uncertain significance
- CBS-related disorder; Homocystinuria; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- ESM-1b 0.00
- AlphaMissense 0.45
- MetaLR 0.37
- MetaSVM -0.29
- SIFT 0.12
- ClinVar: Uncertain significance (HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED)
- EBI: Pathogenic (in CBSD)
- UniProt: Pathogenic (in CBSD)
- Population evidence available
- Structural context available
- CBS low-B6 imputed and refined: score 0.535
- Cited in: High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine… (PMID 12007221)
- Cited in: Stroke in young patients with hyperhomocysteinemia due to cystathionine beta-synthase deficiency. (PMID 12552044)