V320A (p.Val320Ala) variant of CBS (Cystathionine beta-synthase)
V320A (p.Val320Ala) in CBS (Cystathionine beta-synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; Homocystinuria; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V320A (p.Val320Ala) variant details
- p.Val320Ala
- rs781567152
- ClinGen CA16041998
- ClinVar RCV000410016
- ClinVar RCV000780081
- Pathogenic/Likely pathogenic
- HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; Homocystinuria; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- ESM-1b 1.00
- AlphaMissense 0.33
- MetaLR 0.92
- MetaSVM 1.01
- SIFT 0.03
- MutPred 0.86
- ClinVar: Pathogenic/Likely pathogenic (HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; Homocystinuria; n)
- EBI: Pathogenic (in CBSD)
- UniProt: Pathogenic (in CBSD)
- Population evidence available
- Structural context available
- CBS low-B6 imputed and refined: score 0.136
- Cited in: Cystathionine beta-synthase deficiency in Georgia (USA): correlation of clinical and biochemical phenotype with… (PMID 14635102)
- Cited in: Functional modeling of vitamin responsiveness in yeast: a common pyridoxine-responsive cystathionine beta-synthase… (PMID 9361025)