P58L (p.Pro58Leu) variant of GLG1 (Golgi apparatus protein 1)
P58L (p.Pro58Leu) in GLG1 (Golgi apparatus protein 1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
P58L (p.Pro58Leu) variant details
- p.Pro58Leu
- cosmic curated COSV10506
- TOPMed rs993441751
- gnomAD rs993441751
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.146
- REVEL 0.02
- MetaLR 0.03
- MetaSVM -1.03
- CADD 19.90
- PolyPhen-2 0.00
- SIFT 0.18
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available