D120A (p.Asp120Ala) variant of CBS (Cystathionine beta-synthase)
D120A (p.Asp120Ala) in CBS (Cystathionine beta-synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D120A (p.Asp120Ala) variant details
- p.Asp120Ala
- gnomAD 21-43055889-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.141
- REVEL 0.01
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 1.52
- Population evidence available
- Structural context available
- CBS low-B6 imputed and refined: score 0.23
- Literature evidence available