M1T (p.Met1Thr) variant of CBS (Cystathionine beta-synthase)
M1T (p.Met1Thr) 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 not provided; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs769766030
- ClinGen CA243089
- ClinVar RCV000176975
- ClinVar RCV003597965
- Conflicting interpretations
- not provided; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
- Missense
- Variant Prioritization Score for Impact Estimate 0.876
- ESM-1b 1.00
- AlphaMissense 0.49
- MetaLR 0.95
- MetaSVM 1.04
- SIFT 0.01
- MutPred 0.92
- ClinVar: Conflicting classifications of pathogenicity (not provided; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available