D86G (p.Asp86Gly) variant of CBS (Cystathionine beta-synthase)
D86G (p.Asp86Gly) in CBS (Cystathionine beta-synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D86G (p.Asp86Gly) variant details
- p.Asp86Gly
- cosmic curated COSV61443
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- REVEL 0.38
- ESM-1b 0.54
- AlphaMissense 0.10
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.11
- Population evidence available
- Structural context available
- CBS low-B6: score 0.122