H17N (p.His17Asn) variant of CBS (Cystathionine beta-synthase)
H17N (p.His17Asn) 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 HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes experimental measurements and structural context.
H17N (p.His17Asn) variant details
- p.His17Asn
- rs2146428735
- ClinGen CA410602549
- ClinVar RCV001929731
- Ensembl rs2146428735
- Uncertain significance
- HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
- Missense
- Variant Prioritization Score for Impact Estimate 0.503
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.93
- MetaSVM 0.83
- SIFT 0.03
- MutPred 0.09
- ClinVar: Uncertain significance (HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- CBS low-B6 imputed and refined: score 0.377