A71V (p.Ala71Val) variant of CBS (Cystathionine beta-synthase)
A71V (p.Ala71Val) in CBS (Cystathionine beta-synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A71V (p.Ala71Val) variant details
- p.Ala71Val
- ExAC rs761878715
- gnomAD rs761878715
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- REVEL 0.34
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 13.80
- PolyPhen-2 0.00
- SIFT 0.33
- Population evidence available
- Structural context available
- CBS low-B6 imputed and refined: score 0.853