P74L (p.Pro74Leu) variant of CBS (Cystathionine beta-synthase)
P74L (p.Pro74Leu) in CBS (Cystathionine beta-synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Familial thoracic aortic aneurysm and aortic dissection; HYPERHOM. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P74L (p.Pro74Leu) variant details
- p.Pro74Leu
- rs762862715
- ClinGen CA321100449
- cosmic curated COSV10888
- ClinVar RCV001248604
- Uncertain significance
- not specified; Familial thoracic aortic aneurysm and aortic dissection; HYPERHOM
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- REVEL 0.37
- ESM-1b 1.00
- AlphaMissense 0.08
- CADD 23.50
- PolyPhen-2 0.01
- SIFT 0.05
- ClinVar: Uncertain significance (not specified; Familial thoracic aortic aneurysm and aortic diss)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00068)
- Structural context available
- CBS low-B6 imputed and refined: score 0.731
- 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)