P9Q (p.Pro9Gln) variant of BRCA2 (P51587)
P9Q (p.Pro9Gln) 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.
P9Q (p.Pro9Gln) variant details
- p.Pro9Gln
- gnomAD rs80358527
- Uncertain significance
- Missense
- REVEL 0.10
- AlphaMissense 0.14
- MetaLR 0.01
- MetaSVM -1.05
- CADD 25.10
- PolyPhen-2 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.8e-05)