A71E (p.Ala71Glu) variant of CBS (Cystathionine beta-synthase)
A71E (p.Ala71Glu) in CBS (Cystathionine beta-synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A71E (p.Ala71Glu) variant details
- p.Ala71Glu
- cosmic curated COSV61444
- ExAC rs761878715
- gnomAD rs761878715
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.38
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 7.64
- PolyPhen-2 0.00
- SIFT 0.86
- Population evidence available
- Structural context available
- CBS low-B6 imputed and refined: score 0.853