R9K (p.Arg9Lys) variant of GLG1 (Golgi apparatus protein 1)
R9K (p.Arg9Lys) in GLG1 (Golgi apparatus protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
R9K (p.Arg9Lys) variant details
- p.Arg9Lys
- cosmic curated COSV52670
- gnomAD rs1448479743
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.09
- MetaLR 0.05
- MetaSVM -1.03
- CADD 23.10
- PolyPhen-2 0.05
- SIFT 0.93
- Population evidence available
- Structural context available