A10D (p.Ala10Asp) variant of RB1 (P06400)
A10D (p.Ala10Asp) in RB1 (P06400) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
A10D (p.Ala10Asp) variant details
- p.Ala10Asp
- gnomAD 13-48303941-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.24
- MetaLR 0.60
- MetaSVM -0.26
- CADD 20.30
- PolyPhen-2 0.50
- SIFT 0.57
- Population evidence available
- Structural context available
- Literature evidence available