D86N (p.Asp86Asn) variant of CBS (Cystathionine beta-synthase)
D86N (p.Asp86Asn) in CBS (Cystathionine beta-synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D86N (p.Asp86Asn) variant details
- p.Asp86Asn
- ExAC rs776259258
- gnomAD rs776259258
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 14.30
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- CBS low-B6: score 0.122