L105F (p.Leu105Phe) variant of CBS (Cystathionine beta-synthase)
L105F (p.Leu105Phe) in CBS (Cystathionine beta-synthase) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, experimental measurements, and structural context.
L105F (p.Leu105Phe) variant details
- p.Leu105Phe
- Ensembl rs1601375543
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.701
- REVEL 0.78
- ESM-1b 1.00
- AlphaMissense 0.24
- CADD 24.80
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- CBS low-B6 imputed and refined: score 0.0841