P29T (p.Pro29Thr) variant of RB1 (P06400)
P29T (p.Pro29Thr) in RB1 (P06400) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
P29T (p.Pro29Thr) variant details
- p.Pro29Thr
- gnomAD 13-48303997-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.14
- MetaLR 0.46
- MetaSVM -0.65
- CADD 13.50
- PolyPhen-2 0.00
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available