A18E (p.Ala18Glu) variant of RB1 (P06400)
A18E (p.Ala18Glu) in RB1 (P06400) 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, published literature, and structural context.
A18E (p.Ala18Glu) variant details
- p.Ala18Glu
- gnomAD 13-48303965-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- REVEL 0.16
- MetaLR 0.49
- MetaSVM -0.55
- CADD 5.44
- PolyPhen-2 0.16
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available