F111L (p.Phe111Leu) variant of CBS (Cystathionine beta-synthase)
F111L (p.Phe111Leu) in CBS (Cystathionine beta-synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes experimental measurements and structural context.
F111L (p.Phe111Leu) variant details
- p.Phe111Leu
- cosmic curated COSV11509
- Missense
- Variant Prioritization Score for Impact Estimate 0.984
- ESM-1b 1.00
- AlphaMissense 0.96
- Structural context available
- CBS high-B6 imputed and refined: score 0.0073