A13T (p.Ala13Thr) variant of RB1 (P06400)
A13T (p.Ala13Thr) in RB1 (P06400) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
A13T (p.Ala13Thr) variant details
- p.Ala13Thr
- Ensembl rs2138027234
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.10
- MetaLR 0.46
- MetaSVM -0.63
- CADD 9.36
- PolyPhen-2 0.03
- SIFT 0.69
- Population evidence available
- Structural context available