R18H (p.Arg18His) variant of CBS (Cystathionine beta-synthase)
R18H (p.Arg18His) 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.
R18H (p.Arg18His) variant details
- p.Arg18His
- cosmic curated COSV61441
- gnomAD rs755850396
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- ESM-1b 0.00
- AlphaMissense 0.07
- Structural context available
- CBS low-B6 imputed and refined: score 0.749