V118F (p.Val118Phe) variant of CBS (Cystathionine beta-synthase)
V118F (p.Val118Phe) in CBS (Cystathionine beta-synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V118F (p.Val118Phe) variant details
- p.Val118Phe
- gnomAD 21-43055869-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.21
- ESM-1b 1.00
- AlphaMissense 0.72
- CADD 4.04
- Population evidence available
- Structural context available
- CBS low-B6 imputed and refined: score 0.242
- Literature evidence available