A16S (p.Ala16Ser) variant of RB1 (P06400)
A16S (p.Ala16Ser) in RB1 (P06400) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
A16S (p.Ala16Ser) variant details
- p.Ala16Ser
- gnomAD 13-48303958-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.17
- MetaLR 0.41
- MetaSVM -0.67
- CADD 13.10
- PolyPhen-2 0.04
- SIFT 0.64
- Population evidence available
- Structural context available
- Literature evidence available