A114S (p.Ala114Ser) variant of CBS (Cystathionine beta-synthase)
A114S (p.Ala114Ser) 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 0.69 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A114S (p.Ala114Ser) variant details
- p.Ala114Ser
- rs377708532
- ClinGen CA321097892
- ClinVar RCV002036189
- ExAC rs377708532
- Likely pathogenic
- HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- REVEL 0.75
- ESM-1b 1.00
- AlphaMissense 0.17
- CADD 23.30
- PolyPhen-2 0.62
- SIFT 0.05
- ClinVar: Likely pathogenic (HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED)
- EBI: Likely pathogenic (in CBSD)
- UniProt: Likely pathogenic (in CBSD)
- Most common in the Latino/Admixed American population (allele frequency 2.6e-05)
- Structural context available
- CBS low-B6: score 0.118