T87N (p.Thr87Asn) variant of CBS (Cystathionine beta-synthase)
T87N (p.Thr87Asn) in CBS (Cystathionine beta-synthase) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in CBSD. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
T87N (p.Thr87Asn) variant details
- p.Thr87Asn
- UniProt VAR 074590
- Pathogenic
- in CBSD
- Missense
- Variant Prioritization Score for Impact Estimate 0.861
- REVEL 0.93
- ESM-1b 1.00
- AlphaMissense 0.80
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Pathogenic (in CBSD)
- UniProt: Pathogenic (in CBSD)
- Most common in the Non-Finnish European population (allele frequency 4.7e-06)
- Structural context available
- CBS low-B6 imputed and refined: score 0.263
- Cited in: Characterization of two pathogenic mutations in cystathionine beta-synthase: different intracellular locations for… (PMID 23981774)
- Cited in: Mutational analysis of the cystathionine beta-synthase gene: a splicing mutation, two missense mutations and an… (PMID 10215408)