V10L (p.Val10Leu) variant of CBS (Cystathionine beta-synthase)
V10L (p.Val10Leu) 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 0.48 / 1. The record also includes experimental measurements and structural context.
V10L (p.Val10Leu) variant details
- p.Val10Leu
- rs1479837105
- ClinGen CA410602589
- ClinVar RCV002766723
- Uncertain significance
- HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.88
- MetaSVM 0.66
- SIFT 0.14
- MutPred 0.07
- ClinVar: Uncertain significance (HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- CBS high-B6: score 0.906