V118I (p.Val118Ile) variant of CBS (Cystathionine beta-synthase)
V118I (p.Val118Ile) in CBS (Cystathionine beta-synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V118I (p.Val118Ile) variant details
- p.Val118Ile
- gnomAD 21-43055869-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.17
- ESM-1b 0.46
- AlphaMissense 0.08
- CADD 5.09
- Population evidence available
- Structural context available
- CBS low-B6 imputed and refined: score 0.242
- Literature evidence available