R121L (p.Arg121Leu) variant of CBS (Cystathionine beta-synthase)
R121L (p.Arg121Leu) 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; Classic homocystinuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R121L (p.Arg121Leu) variant details
- p.Arg121Leu
- rs770095972
- ClinGen CA275933
- ClinVar RCV000190373
- ClinVar RCV001857669
- Pathogenic/Likely pathogenic
- HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; Classic homocystinuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.904
- REVEL 0.97
- ESM-1b 1.00
- AlphaMissense 0.95
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; Classic homocysti)
- EBI: Pathogenic (in CBSD)
- UniProt: Pathogenic (in CBSD)
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available
- CBS low-B6: score 0
- Cited in: Cystathionine beta-synthase mutations in homocystinuria. (PMID 10338090)
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)