N113S (p.Asn113Ser) variant of CBS (Cystathionine beta-synthase)
N113S (p.Asn113Ser) in CBS (Cystathionine beta-synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
N113S (p.Asn113Ser) variant details
- p.Asn113Ser
- rs1330810746
- gnomAD 21-43055877-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0646
- REVEL 0.02
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 0.86
- Population evidence available
- Structural context available
- CBS high-B6 imputed and refined: score 0.737
- Literature evidence available