M89I (p.Met89Ile) variant of CBS (Cystathionine beta-synthase)
M89I (p.Met89Ile) in CBS (Cystathionine beta-synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, experimental measurements, and structural context.
M89I (p.Met89Ile) variant details
- p.Met89Ile
- ExAC rs748617584
- gnomAD rs748617584
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- REVEL 0.45
- ESM-1b 1.00
- AlphaMissense 0.32
- CADD 22.70
- PolyPhen-2 0.05
- SIFT 0.04
- Population evidence available
- Structural context available
- CBS high-B6 imputed and refined: score 0.0106