E19K (p.Glu19Lys) variant of RB1 (P06400)
E19K (p.Glu19Lys) in RB1 (P06400) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
E19K (p.Glu19Lys) variant details
- p.Glu19Lys
- Ensembl rs2138027419
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.26
- MetaLR 0.65
- MetaSVM -0.21
- CADD 20.20
- PolyPhen-2 0.64
- SIFT 1.00
- Population evidence available
- Structural context available