P6T (p.Pro6Thr) variant of RB1 (P06400)
P6T (p.Pro6Thr) in RB1 (P06400) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
P6T (p.Pro6Thr) variant details
- p.Pro6Thr
- TOPMed rs886043138
- gnomAD rs886043138
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.14
- MetaLR 0.56
- MetaSVM -0.42
- CADD 15.30
- PolyPhen-2 0.00
- SIFT 0.13
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available