S14P (p.Ser14Pro) variant of GLG1 (Golgi apparatus protein 1)
S14P (p.Ser14Pro) in GLG1 (Golgi apparatus protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
S14P (p.Ser14Pro) variant details
- p.Ser14Pro
- 1000Genomes rs368678359
- ESP rs368678359
- ExAC rs368678359
- TOPMed rs368678359
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.37
- MetaLR 0.07
- MetaSVM -1.03
- CADD 22.00
- PolyPhen-2 0.02
- SIFT 0.18
- Population evidence available
- Structural context available