G96W (p.Gly96Trp) variant of CBS (Cystathionine beta-synthase)
G96W (p.Gly96Trp) in CBS (Cystathionine beta-synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G96W (p.Gly96Trp) variant details
- p.Gly96Trp
- cosmic curated COSV61441
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- REVEL 0.43
- ESM-1b 1.00
- AlphaMissense 0.42
- CADD 23.10
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1e-05)
- Structural context available
- CBS low-B6 imputed and refined: score 0.674