P64A (p.Pro64Ala) variant of CBS (Cystathionine beta-synthase)
P64A (p.Pro64Ala) 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 experimental measurements and structural context.
P64A (p.Pro64Ala) variant details
- p.Pro64Ala
- Ensembl rs1983434122
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- ESM-1b 0.00
- AlphaMissense 0.15
- Structural context available
- CBS low-B6 imputed and refined: score 0.0377