S14A (p.Ser14Ala) variant of GLG1 (Golgi apparatus protein 1)
S14A (p.Ser14Ala) in GLG1 (Golgi apparatus protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
S14A (p.Ser14Ala) variant details
- p.Ser14Ala
- 1000Genomes rs368678359
- ESP rs368678359
- ExAC rs368678359
- TOPMed rs368678359
- Missense
- Variant Prioritization Score for Impact Estimate 0.135
- REVEL 0.05
- MetaLR 0.06
- MetaSVM -1.01
- CADD 19.00
- PolyPhen-2 0.00
- SIFT 0.53
- Population evidence available
- Structural context available