R91K (p.Arg91Lys) variant of CBS (Cystathionine beta-synthase)
R91K (p.Arg91Lys) in CBS (Cystathionine beta-synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R91K (p.Arg91Lys) variant details
- p.Arg91Lys
- Ensembl rs71322503
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.16
- CADD 16.30
- PolyPhen-2 0.07
- SIFT 0.25
- Population evidence available
- Structural context available
- CBS high-B6: score 0