I95T (p.Ile95Thr) variant of CBS (Cystathionine beta-synthase)
I95T (p.Ile95Thr) 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 Classic homocystinuria; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
I95T (p.Ile95Thr) variant details
- p.Ile95Thr
- rs1347662650
- ClinGen CA410602047
- ClinVar RCV000557426
- ClinVar RCV002232085
- Conflicting interpretations
- Classic homocystinuria; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 0.19
- CADD 24.80
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Classic homocystinuria; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RE)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 4.4e-05)
- Structural context available
- CBS low-B6 imputed and refined: score 0.0353
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)
- Cited in: Homocystinuria due to Cystathionine Beta-Synthase Deficiency. (PMID 20301697)