A16T (p.Ala16Thr) variant of RB1 (P06400)
A16T (p.Ala16Thr) in RB1 (P06400) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
A16T (p.Ala16Thr) variant details
- p.Ala16Thr
- Ensembl rs2138027331
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.14
- MetaLR 0.47
- MetaSVM -0.62
- CADD 15.00
- PolyPhen-2 0.00
- SIFT 0.43
- Population evidence available
- Structural context available