K72I (p.Lys72Ile) variant of CBS (Cystathionine beta-synthase)
K72I (p.Lys72Ile) in CBS (Cystathionine beta-synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Connective tissue disorder; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K72I (p.Lys72Ile) variant details
- p.Lys72Ile
- rs192232907
- ClinGen CA320825
- cosmic curated COSV10065
- ClinVar RCV000196407
- Conflicting interpretations
- Connective tissue disorder; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.36
- ESM-1b 0.48
- AlphaMissense 0.11
- CADD 13.90
- PolyPhen-2 0.00
- SIFT 0.16
- ClinVar: Conflicting classifications of pathogenicity (Connective tissue disorder; not specified; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:CHS population (allele frequency 0.01)
- Structural context available
- CBS low-B6: score 0.006
- 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)