D120N (p.Asp120Asn) variant of CBS (Cystathionine beta-synthase)
D120N (p.Asp120Asn) in CBS (Cystathionine beta-synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D120N (p.Asp120Asn) variant details
- p.Asp120Asn
- gnomAD rs1251292223
- Conflicting interpretations
- HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.876
- REVEL 0.92
- ESM-1b 1.00
- AlphaMissense 0.97
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.6e-05)
- Structural context available
- CBS low-B6 imputed and refined: score 0.23