P2H (p.Pro2His) variant of BRCA2 (P51587)
P2H (p.Pro2His) in BRCA2 (P51587) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions and population frequency data.
P2H (p.Pro2His) variant details
- p.Pro2His
- TOPMed rs80358836
- Uncertain significance
- Missense
- REVEL 0.05
- AlphaMissense 0.15
- MetaLR 0.01
- MetaSVM -1.03
- CADD 23.10
- PolyPhen-2 0.80
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)