N113H (p.Asn113His) variant of CBS (Cystathionine beta-synthase)
N113H (p.Asn113His) in CBS (Cystathionine beta-synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
N113H (p.Asn113His) variant details
- p.Asn113His
- rs1434749294
- gnomAD 21-43055878-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- ESM-1b 1.00
- AlphaMissense 0.60
- CADD 4.38
- Population evidence available
- Structural context available
- CBS high-B6 imputed and refined: score 0.737
- Literature evidence available