A14D (p.Ala14Asp) variant of RB1 (P06400)
A14D (p.Ala14Asp) in RB1 (P06400) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
A14D (p.Ala14Asp) variant details
- p.Ala14Asp
- gnomAD 13-48303953-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.22
- MetaLR 0.55
- MetaSVM -0.37
- CADD 9.92
- PolyPhen-2 0.25
- SIFT 0.62
- Population evidence available
- Structural context available
- Literature evidence available