F112L (p.Phe112Leu) variant of CBS (Cystathionine beta-synthase)
F112L (p.Phe112Leu) in CBS (Cystathionine beta-synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
F112L (p.Phe112Leu) variant details
- p.Phe112Leu
- gnomAD 21-43055809-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0739
- REVEL 0.02
- ESM-1b 0.00
- AlphaMissense 0.73
- CADD 4.51
- Population evidence available
- Structural context available
- CBS low-B6 imputed and refined: score 0.0252
- Literature evidence available