I76V (p.Ile76Val) variant of CBS (Cystathionine beta-synthase)
I76V (p.Ile76Val) 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.
I76V (p.Ile76Val) variant details
- p.Ile76Val
- Ensembl rs1601375965
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- ESM-1b 0.00
- AlphaMissense 0.11
- Structural context available
- CBS high-B6: score 0.254