P24T (p.Pro24Thr) variant of RB1 (P06400)
P24T (p.Pro24Thr) in RB1 (P06400) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
P24T (p.Pro24Thr) variant details
- p.Pro24Thr
- TOPMed rs1952053688
- gnomAD rs1952053688
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.30
- MetaLR 0.69
- MetaSVM -0.14
- CADD 17.60
- PolyPhen-2 0.98
- SIFT 0.60
- Population evidence available
- Structural context available