I95N (p.Ile95Asn) variant of CBS (Cystathionine beta-synthase)
I95N (p.Ile95Asn) 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; Classic homocystinuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, experimental measurements, and structural context.
I95N (p.Ile95Asn) variant details
- p.Ile95Asn
- rs1347662650
- ClinGen CA410602048
- ClinVar RCV003598641
- gnomAD rs1347662650
- Conflicting interpretations
- HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; Classic homocystinuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.789
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.79
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; Classic homocysti)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 0.00013)
- Structural context available
- CBS low-B6 imputed and refined: score 0.0353