L105I (p.Leu105Ile) variant of CBS (Cystathionine beta-synthase)
L105I (p.Leu105Ile) in CBS (Cystathionine beta-synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes experimental measurements and structural context.
L105I (p.Leu105Ile) variant details
- p.Leu105Ile
- cosmic curated COSV10065
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- ESM-1b 1.00
- AlphaMissense 0.09
- Structural context available
- CBS low-B6 imputed and refined: score 0.0841