G14V (p.Gly14Val) variant of CBS (Cystathionine beta-synthase)
G14V (p.Gly14Val) in CBS (Cystathionine beta-synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes experimental measurements and structural context.
G14V (p.Gly14Val) variant details
- p.Gly14Val
- gnomAD rs1371674515
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- ESM-1b 0.00
- AlphaMissense 0.08
- Structural context available
- CBS high-B6: score 0