K102N (p.Lys102Asn) variant of CBS (Cystathionine beta-synthase)
K102N (p.Lys102Asn) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes experimental measurements, published literature, and structural context.
K102N (p.Lys102Asn) variant details
- p.Lys102Asn
- rs786204609
- ClinGen CA274220
- ClinVar RCV000169368
- ClinVar RCV002444680
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.822
- ESM-1b 1.00
- AlphaMissense 0.33
- MetaLR 0.89
- MetaSVM 0.89
- SIFT 0.00
- MutPred 0.86
- ClinVar: Uncertain significance (not specified)
- EBI: Pathogenic (in CBSD)
- UniProt: Pathogenic (in CBSD)
- Structural context available
- CBS low-B6 imputed and refined: score 0.034
- Cited in: Cystathionine beta-synthase mutations: effect of mutation topology on folding and activity. (PMID 20506325)
- Cited in: Identical genotypes in siblings with different homocystinuric phenotypes: identification of three mutations in… (PMID 7981678)