A8G (p.Ala8Gly) variant of PCCB (P05166)
A8G (p.Ala8Gly) 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 0.25 / 1. The record also includes population frequency data and structural context.
A8G (p.Ala8Gly) variant details
- p.Ala8Gly
- ExAC rs764602019
- TOPMed rs764602019
- gnomAD rs764602019
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 16.00
- PolyPhen-2 0.00
- SIFT 0.06
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available