P88L (p.Pro88Leu) variant of GLG1 (Golgi apparatus protein 1)
P88L (p.Pro88Leu) in GLG1 (Golgi apparatus protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
P88L (p.Pro88Leu) variant details
- p.Pro88Leu
- cosmic curated COSV52666
- gnomAD rs1177437652
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.08
- MetaLR 0.02
- MetaSVM -0.97
- CADD 16.40
- PolyPhen-2 0.06
- SIFT 0.20
- Population evidence available
- Structural context available