A14A (p.Ala14Ala) variant of RB1 (P06400)
A14A (p.Ala14Ala) in RB1 (P06400) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
A14A (p.Ala14Ala) variant details
- p.Ala14Ala
- gnomAD 13-48303954-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.125
- CADD 6.23
- Population evidence available
- Structural context available
- Literature evidence available