D35N (p.Asp35Asn) variant of CBS (Cystathionine beta-synthase)
D35N (p.Asp35Asn) 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 0.51 / 1. The record also includes experimental measurements and structural context.
D35N (p.Asp35Asn) variant details
- p.Asp35Asn
- rs368471318
- ClinGen CA410602444
- ClinVar RCV003112258
- ESP rs368471318
- Uncertain significance
- HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.93
- MetaSVM 0.85
- SIFT 0.03
- ClinVar: Uncertain significance (HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- CBS low-B6: score 0