A17D (p.Ala17Asp) variant of RB1 (P06400)
A17D (p.Ala17Asp) in RB1 (P06400) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
A17D (p.Ala17Asp) variant details
- p.Ala17Asp
- gnomAD 13-48303962-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.15
- MetaLR 0.54
- MetaSVM -0.56
- CADD 13.80
- PolyPhen-2 0.01
- SIFT 0.54
- Population evidence available
- Structural context available
- Literature evidence available