L28I (p.Leu28Ile) variant of PCCB (P05166)
L28I (p.Leu28Ile) 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 0.33 / 1. The record also includes population frequency data and structural context.
L28I (p.Leu28Ile) variant details
- p.Leu28Ile
- 1000Genomes rs141137691
- ESP rs141137691
- ExAC rs141137691
- TOPMed rs141137691
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.24
- ESM-1b 0.83
- AlphaMissense 0.08
- CADD 9.62
- PolyPhen-2 0.00
- SIFT 0.15
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available