L101P (p.Leu101Pro) variant of CBS (Cystathionine beta-synthase)
L101P (p.Leu101Pro) in CBS (Cystathionine beta-synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; CBS-related disorder; Homocystinu. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L101P (p.Leu101Pro) variant details
- p.Leu101Pro
- rs786204757
- ClinGen CA274473
- ClinVar RCV000169617
- ClinVar RCV001251397
- Pathogenic/Likely pathogenic
- HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; CBS-related disorder; Homocystinu
- Missense
- Variant Prioritization Score for Impact Estimate 0.834
- REVEL 0.97
- ESM-1b 1.00
- AlphaMissense 0.85
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; CBS-related disor)
- EBI: Pathogenic (in CBSD)
- UniProt: Pathogenic (in CBSD)
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available
- CBS high-B6 imputed and refined: score 0.0037
- Cited in: The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations… (PMID 12124992)
- Cited in: Cystathionine beta-synthase deficiency in Georgia (USA): correlation of clinical and biochemical phenotype with… (PMID 14635102)