A38P (p.Ala38Pro) variant of CBS (Cystathionine beta-synthase)
A38P (p.Ala38Pro) in CBS (Cystathionine beta-synthase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes experimental measurements and structural context.
A38P (p.Ala38Pro) variant details
- p.Ala38Pro
- gnomAD rs1064795253
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- ESM-1b 0.00
- AlphaMissense 0.08
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- CBS low-B6 imputed and refined: score 0.155