A12P (p.Ala12Pro) variant of PCCB (P05166)
A12P (p.Ala12Pro) in PCCB (P05166) 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 structural context.
A12P (p.Ala12Pro) variant details
- p.Ala12Pro
- TOPMed rs1230563587
- gnomAD rs1230563587
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- ESM-1b 0.00
- AlphaMissense 0.12
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available