R121G (p.Arg121Gly) variant of CBS (Cystathionine beta-synthase)
R121G (p.Arg121Gly) in CBS (Cystathionine beta-synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R121G (p.Arg121Gly) variant details
- p.Arg121Gly
- rs775992753
- ClinGen CA410601866
- ClinVar RCV003598735
- ClinVar RCV005409958
- Pathogenic/Likely pathogenic
- HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.85
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.97
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; not provided)
- EBI: Pathogenic (in CBSD)
- UniProt: Pathogenic (in CBSD)
- Most common in the African/African-American population (allele frequency 7e-05)
- Structural context available
- CBS low-B6: score 0