P4H (p.Pro4His) variant of PALB2 (Partner and localizer of BRCA2)
P4H (p.Pro4His) in PALB2 (Partner and localizer of BRCA2) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
P4H (p.Pro4His) variant details
- p.Pro4His
- ESP rs45619737
- ExAC rs45619737
- TOPMed rs45619737
- gnomAD rs45619737
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.04
- AlphaMissense 0.36
- MetaLR 0.02
- MetaSVM -0.94
- CADD 22.70
- PolyPhen-2 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available