G100S (p.Gly100Ser) variant of CBS (Cystathionine beta-synthase)
G100S (p.Gly100Ser) 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 0.74 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G100S (p.Gly100Ser) variant details
- p.Gly100Ser
- rs1310019343
- ClinGen CA410602016
- cosmic curated COSV61444
- ClinVar RCV002903580
- Uncertain significance
- HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- REVEL 0.76
- ESM-1b 1.00
- AlphaMissense 0.09
- CADD 24.00
- PolyPhen-2 0.55
- SIFT 0.00
- ClinVar: Uncertain significance (HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.00011)
- Structural context available
- CBS low-B6: score 0