K97N (p.Lys97Asn) variant of CBS (Cystathionine beta-synthase)
K97N (p.Lys97Asn) in CBS (Cystathionine beta-synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes experimental measurements and structural context.
K97N (p.Lys97Asn) variant details
- p.Lys97Asn
- TOPMed rs1983106311
- Missense
- Variant Prioritization Score for Impact Estimate 0.66
- ESM-1b 1.00
- AlphaMissense 0.25
- Structural context available
- CBS high-B6: score 0