P26T (p.Pro26Thr) variant of RB1 (P06400)
P26T (p.Pro26Thr) in RB1 (P06400) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
P26T (p.Pro26Thr) variant details
- p.Pro26Thr
- gnomAD 13-48303988-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.22
- MetaLR 0.39
- MetaSVM -0.71
- CADD 6.91
- PolyPhen-2 0.05
- SIFT 0.30
- Population evidence available
- Structural context available
- Literature evidence available