A16A (p.Ala16Ala) variant of RB1 (P06400)
A16A (p.Ala16Ala) in RB1 (P06400) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
A16A (p.Ala16Ala) variant details
- p.Ala16Ala
- gnomAD 13-48303960-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.142
- CADD 6.38
- Population evidence available
- Structural context available
- Literature evidence available