K75N (p.Lys75Asn) variant of CBS (Cystathionine beta-synthase)
K75N (p.Lys75Asn) 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 Familial thoracic aortic aneurysm and aortic dissection. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, experimental measurements, and structural context.
K75N (p.Lys75Asn) variant details
- p.Lys75Asn
- 1000Genomes rs552179536
- ExAC rs552179536
- gnomAD rs552179536
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.36
- ESM-1b 1.00
- AlphaMissense 0.17
- CADD 20.80
- PolyPhen-2 0.01
- SIFT 0.06
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00022)
- Structural context available
- CBS low-B6 imputed and refined: score 0.955