L106F (p.Leu106Phe) variant of CBS (Cystathionine beta-synthase)
L106F (p.Leu106Phe) in CBS (Cystathionine beta-synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes experimental measurements and structural context.
L106F (p.Leu106Phe) variant details
- p.Leu106Phe
- cosmic curated COSV61441
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- ESM-1b 1.00
- AlphaMissense 0.16
- Structural context available
- CBS high-B6 imputed and refined: score 0.169