S117I (p.Ser117Ile) variant of CBS (Cystathionine beta-synthase)
S117I (p.Ser117Ile) in CBS (Cystathionine beta-synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S117I (p.Ser117Ile) variant details
- p.Ser117Ile
- ExAC rs772768738
- gnomAD rs772768738
- Missense
- Variant Prioritization Score for Impact Estimate 0.911
- REVEL 0.99
- ESM-1b 1.00
- AlphaMissense 0.98
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 5.7e-06)
- Structural context available
- CBS low-B6 imputed and refined: score 0.862