M89K (p.Met89Lys) variant of CBS (Cystathionine beta-synthase)
M89K (p.Met89Lys) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, experimental measurements, and structural context.
M89K (p.Met89Lys) variant details
- p.Met89Lys
- rs772450760
- ClinGen CA322220
- ClinVar RCV001090985
- ExAC rs772450760
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.92
- CADD 25.90
- PolyPhen-2 0.78
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.4e-05)
- Structural context available
- CBS high-B6 imputed and refined: score 0.0106