N113D (p.Asn113Asp) variant of CBS (Cystathionine beta-synthase)
N113D (p.Asn113Asp) in CBS (Cystathionine beta-synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
N113D (p.Asn113Asp) variant details
- p.Asn113Asp
- gnomAD 21-43055878-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- ESM-1b 1.00
- AlphaMissense 0.87
- CADD 4.82
- Population evidence available
- Structural context available
- CBS high-B6 imputed and refined: score 0.737
- Literature evidence available