P5T (p.Pro5Thr) variant of PALB2 (Partner and localizer of BRCA2)
P5T (p.Pro5Thr) in PALB2 (Partner and localizer of BRCA2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
P5T (p.Pro5Thr) variant details
- p.Pro5Thr
- ESP rs377085677
- ExAC rs377085677
- TOPMed rs377085677
- gnomAD rs377085677
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.115
- REVEL 0.02
- AlphaMissense 0.08
- MetaLR 0.02
- MetaSVM -0.94
- CADD 12.30
- PolyPhen-2 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available