S349R (p.Ser349Arg) variant of CBS (Cystathionine beta-synthase)
S349R (p.Ser349Arg) in CBS (Cystathionine beta-synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; Classic homocystinuria. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes experimental measurements and structural context.
S349R (p.Ser349Arg) variant details
- p.Ser349Arg
- rs2517413033
- ClinGen CA410398261
- ClinVar RCV003494889
- Conflicting interpretations
- HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; Classic homocystinuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.998
- ESM-1b 1.00
- AlphaMissense 1.00
- ClinVar: Conflicting classifications of pathogenicity (HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; Classic homocysti)
- EBI: Likely pathogenic (in CBSD)
- UniProt: Likely pathogenic (in CBSD)
- Structural context available
- CBS low-B6 imputed and refined: score 0.943