I80V (p.Ile80Val) variant of CBS (Cystathionine beta-synthase)
I80V (p.Ile80Val) in CBS (Cystathionine beta-synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, experimental measurements, and structural context.
I80V (p.Ile80Val) variant details
- p.Ile80Val
- ExAC rs769608918
- gnomAD rs769608918
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.56
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 20.80
- PolyPhen-2 0.25
- SIFT 0.25
- Population evidence available
- Structural context available
- CBS low-B6: score 0.0412