K119N (p.Lys119Asn) variant of CBS (Cystathionine beta-synthase)
K119N (p.Lys119Asn) in CBS (Cystathionine beta-synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K119N (p.Lys119Asn) variant details
- p.Lys119Asn
- gnomAD 21-43055891-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.22
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 0.62
- Population evidence available
- Structural context available
- CBS low-B6 imputed and refined: score 0.0355
- Literature evidence available