V118M (p.Val118Met) variant of CBS (Cystathionine beta-synthase)
V118M (p.Val118Met) 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 Classic homocystinuria; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V118M (p.Val118Met) variant details
- p.Val118Met
- rs763385546
- ClinGen CA10644745
- NCI-TCGA Cosmic COSV6144
- cosmic curated COSV61445
- Uncertain significance
- Classic homocystinuria; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- REVEL 0.92
- ESM-1b 1.00
- AlphaMissense 0.35
- CADD 25.70
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Uncertain significance (Classic homocystinuria; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.5e-05)
- Structural context available
- CBS low-B6 imputed and refined: score 0.242
- 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)