A114T (p.Ala114Thr) variant of CBS (Cystathionine beta-synthase)
A114T (p.Ala114Thr) 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 CBS-related disorder; Homocystinuria; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A114T (p.Ala114Thr) variant details
- p.Ala114Thr
- rs377708532
- ClinGen CA321097898
- cosmic curated COSV10065
- ClinVar RCV000493781
- Conflicting interpretations
- CBS-related disorder; Homocystinuria; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- REVEL 0.85
- ESM-1b 1.00
- AlphaMissense 0.29
- CADD 25.30
- PolyPhen-2 0.81
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (not specified; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; no)
- EBI: Likely pathogenic (in CBSD)
- UniProt: Likely pathogenic (in CBSD)
- Most common in the REMAINING population (allele frequency 5.7e-05)
- Structural context available
- CBS low-B6: score 0.118