E104D (p.Glu104Asp) variant of CBS (Cystathionine beta-synthase)
E104D (p.Glu104Asp) in CBS (Cystathionine beta-synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes experimental measurements and structural context.
E104D (p.Glu104Asp) variant details
- p.Glu104Asp
- cosmic curated COSV61442
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- ESM-1b 0.96
- AlphaMissense 0.22
- Structural context available
- CBS low-B6 imputed and refined: score 0.662