P21T (p.Pro21Thr) variant of RB1 (P06400)
P21T (p.Pro21Thr) in RB1 (P06400) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
P21T (p.Pro21Thr) variant details
- p.Pro21Thr
- gnomAD 13-48303973-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.25
- MetaLR 0.62
- MetaSVM -0.29
- CADD 17.40
- PolyPhen-2 0.98
- SIFT 0.89
- Population evidence available
- Structural context available
- Literature evidence available